Canonical Allele Identifier: CA16602546
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376085
ClinVar RCV Id: RCV000420247
dbSNP Id: rs121913455
COSMIC: COSM12631

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862955C>G , CM000671.2:g.130862955C>G GRCh38
NC_000009.11:g.133738342C>G , CM000671.1:g.133738342C>G GRCh37
NC_000009.10:g.132728163C>G NCBI36
NG_012034.1:g.154075C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318560.6:c.742C>G MANE Select ENSP00000323315.5:p.Leu248Val
ENST00000372348.7:c.799C>G ENSP00000361423.2:p.Leu267Val
ENST00000318560.5:c.742C>G ENSP00000323315.5:p.Leu248Val
ENST00000372348.6:c.799C>G ENSP00000361423.2:p.Leu267Val
NM_005157.5:c.742C>G NP_005148.2:p.Leu248Val
NM_007313.2:c.799C>G NP_009297.2:p.Leu267Val
NM_005157.6:c.742C>G MANE Select NP_005148.2:p.Leu248Val
NM_007313.3:c.799C>G NP_009297.2:p.Leu267Val