ClinVar

NM_005157.6(ABL1):c.1877G>A (p.Gly626Asp)

Gene:

ABL1:ABL proto-oncogene 1, non-receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.12

Genomic location:

• Chr9: 130884167 (on Assembly GRCh38)
• Chr9: 133759554 (on Assembly GRCh37)

Preferred name:

NM_005157.6(ABL1):c.1877G>A (p.Gly626Asp)

HGVS:

• NC_000009.12:g.130884167G>A
• NG_012034.1:g.175287G>A
• NM_005157.6:c.1877G>AMANE SELECT
• NM_007313.3:c.1934G>A
• NP_005148.2:p.Gly626Asp
• NP_009297.2:p.Gly645Asp
• NP_009297.2:p.Gly645Asp
• LRG_769t1:c.1877G>A
• LRG_769t2:c.1934G>A
• LRG_769:g.175287G>A
• LRG_769p1:p.Gly626Asp
• LRG_769p2:p.Gly645Asp
• NC_000009.11:g.133759554G>A
• NM_007313.2:c.1934G>A

This HGVS expression did not pass validation

Protein change:

G626D

Links:

dbSNP: rs1253014415

NCBI 1000 Genomes Browser:

rs1253014415

Molecular consequence:

• NM_005157.6:c.1877G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007313.3:c.1934G>A - missense variant - [Sequence Ontology: SO:0001583]