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These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in
this section to the one reported in Genomic regions,
transcripts, and products above.
Genomic
-
NG_011569.1 RefSeqGene
- Range
-
5001..305019
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_7
mRNA and Protein(s)
-
NM_000068.4 → NP_000059.3 voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 2. The resulting isoform (1) has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
- Source sequence(s)
-
AB035726, AC008540, AC011446, AF004883, BQ340521
- Consensus CDS
-
CCDS82301.1
- UniProtKB/TrEMBL
-
A0A384DVW2
- Related
- ENSP00000490617.1, ENST00000637432.1
- Conserved Domains (3) summary
-
- pfam00520
Location:1586 → 1827
- Ion_trans; Ion transport protein
- pfam08763
Location:1900 → 1974
- Ca_chan_IQ; Voltage gated calcium channel IQ domain
- pfam16905
Location:1835 → 1898
- GPHH; Voltage-dependent L-type calcium channel, IQ-associated
-
NM_001127221.2 → NP_001120693.1 voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) uses two alternate splice sites, lacks two alternate exons, and includes an additional exon, compared to variant 2. The resulting isoform (3) differs at 3 internal regions and has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
- Source sequence(s)
-
AC008540, AC011446, AC124224, AF004883, X99897
- Consensus CDS
-
CCDS45999.1
- UniProtKB/TrEMBL
-
A0A1B0GTI4
- Related
- ENSP00000489913.1, ENST00000638009.2
- Conserved Domains (3) summary
-
- pfam00520
Location:1583 → 1822
- Ion_trans; Ion transport protein
- pfam08763
Location:1895 → 1969
- Ca_chan_IQ; Voltage gated calcium channel IQ domain
- pfam16905
Location:1830 → 1893
- GPHH; Voltage-dependent L-type calcium channel, IQ-associated
-
NM_001127222.2 → NP_001120694.1 voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 4
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) uses two alternate in-frame splice sites and lacks an alternate in-frame exon, compared to variant 2. The resulting isoform (4) differs at three internal regions, compared to isoform 2, and includes the polyglutamine tract near the C-terminus.
- Source sequence(s)
-
AB035727, AC008540, AC011446, AC022436, AC026805, AC124224, AF004883
- Consensus CDS
-
CCDS45998.1
- UniProtKB/Swiss-Prot
- J3KP41, O00555, P78510, P78511, Q16290, Q92690, Q99790, Q99791, Q99792, Q99793, Q9NS88, Q9UDC4
- UniProtKB/TrEMBL
-
A0A1B0GU81
- Related
- ENSP00000353362.5, ENST00000360228.11
- Conserved Domains (4) summary
-
- pfam00520
Location:1564 → 1821
- Ion_trans; Ion transport protein
- pfam08763
Location:1894 → 1968
- Ca_chan_IQ; Voltage gated calcium channel IQ domain
- pfam16905
Location:1822 → 1892
- GPHH; Voltage-dependent L-type calcium channel, IQ-associated
- cl28033
Location:2233 → 2503
- Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
-
NM_001174080.2 → NP_001167551.1 voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 5
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) uses two alternate splice sites, compared to variant 2. The resulting isoform (5) lacks an internal 3-aa segment and has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
- Source sequence(s)
-
AC008540, AC011446, AF004883, FJ040507
- Consensus CDS
-
CCDS82302.1
- UniProtKB/TrEMBL
- A0A384DVW2, B5TYJ1
- Related
- ENSP00000490578.1, ENST00000636549.1
- Conserved Domains (3) summary
-
- pfam00520
Location:1583 → 1824
- Ion_trans; Ion transport protein
- pfam08763
Location:1897 → 1971
- Ca_chan_IQ; Voltage gated calcium channel IQ domain
- pfam16905
Location:1832 → 1895
- GPHH; Voltage-dependent L-type calcium channel, IQ-associated
-
NM_023035.3 → NP_075461.2 voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). This variant includes a (CAG)n-repeat in the coding region, resulting in a polyglutamine tract near the C-terminus.
- Source sequence(s)
-
AB035726, AC008540, AC011446, AF004884, BQ340521
- Consensus CDS
-
CCDS82300.1
- UniProtKB/TrEMBL
- A0A087WW63, A0A1B0GU81
- Related
- ENSP00000489829.1, ENST00000638029.1
- Conserved Domains (4) summary
-
- pfam00520
Location:1586 → 1827
- Ion_trans; Ion transport protein
- pfam05550
Location:2352 → 2424
- Peptidase_C53; Pestivirus Npro endopeptidase C53
- pfam08763
Location:1900 → 1974
- Ca_chan_IQ; Voltage gated calcium channel IQ domain
- pfam16905
Location:1835 → 1898
- GPHH; Voltage-dependent L-type calcium channel, IQ-associated
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
assemblies. Model RNAs and proteins are also reported here.
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000019.10 Reference GRCh38.p14 Primary Assembly
- Range
-
13206442..13506479 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060943.1 Alternate T2T-CHM13v2.0
- Range
-
13331719..13631840 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)