Canonical Allele Identifier: CA16602548
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376087
ClinVar RCV Id: RCV000440949
dbSNP Id: rs121913458
COSMIC: COSM12609
MyVariant Identifiers: chr9:g.133738356G>C (hg19) chr9:g.130862969G>C (hg38)
PubMed: PMID:12399961 PMID:12623848 PMID:15256422 PMID:20367437 PMID:24109527 PMID:25157968
CIViC: CA16602548
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862969G>C , CM000671.2:g.130862969G>C GRCh38
NC_000009.11:g.133738356G>C , CM000671.1:g.133738356G>C GRCh37
NC_000009.10:g.132728177G>C NCBI36
NG_012034.1:g.154089G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372348.9:c.813G>C ENSP00000361423.2:p.Gln271His
ENST00000318560.6:c.756G>C MANE Select ENSP00000323315.5:p.Gln252His
ENST00000372348.7:c.813G>C ENSP00000361423.2:p.Gln271His
ENST00000318560.5:c.756G>C ENSP00000323315.5:p.Gln252His
ENST00000372348.6:c.813G>C ENSP00000361423.2:p.Gln271His
NM_005157.5:c.756G>C NP_005148.2:p.Gln252His
NM_007313.2:c.813G>C NP_009297.2:p.Gln271His
NM_005157.6:c.756G>C MANE Select NP_005148.2:p.Gln252His
NM_007313.3:c.813G>C NP_009297.2:p.Gln271His
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