ClinVar

NM_001903.5(CTNNA1):c.163T>C (p.Ser55Pro)

Gene:

CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 138783234 (on Assembly GRCh38)
• Chr5: 138118923 (on Assembly GRCh37)

Preferred name:

NM_001903.5(CTNNA1):c.163T>C (p.Ser55Pro)

HGVS:

• NC_000005.10:g.138783234T>C
• NG_047029.1:g.34839T>C
• NM_001290307.3:c.163T>C
• NM_001290309.3:c.-9+1205T>C
• NM_001290310.3:c.-44T>C
• NM_001323982.2:c.163T>C
• NM_001323983.1:c.163T>C
• NM_001323984.2:c.163T>C
• NM_001323985.2:c.163T>C
• NM_001323986.2:c.163T>C
• NM_001903.5:c.163T>CMANE SELECT
• NP_001277236.1:p.Ser55Pro
• NP_001310911.1:p.Ser55Pro
• NP_001310912.1:p.Ser55Pro
• NP_001310913.1:p.Ser55Pro
• NP_001310914.1:p.Ser55Pro
• NP_001310915.1:p.Ser55Pro
• NP_001894.2:p.Ser55Pro
• NC_000005.9:g.138118923T>C
• NM_001290307.2:c.163T>C

This HGVS expression did not pass validation

Protein change:

S55P

Links:

dbSNP: rs1755329623

NCBI 1000 Genomes Browser:

rs1755329623

Molecular consequence:

• NM_001290310.3:c.-44T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290309.3:c.-9+1205T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290307.3:c.163T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323982.2:c.163T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323983.1:c.163T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323984.2:c.163T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323985.2:c.163T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323986.2:c.163T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001903.5:c.163T>C - missense variant - [Sequence Ontology: SO:0001583]