Canonical Allele Identifier: CA122584
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12627
ClinVar RCV Id: RCV000013462 RCV000433552 RCV000439817
dbSNP Id: rs121913461
COSMIC: COSM12576
MyVariant Identifiers: chr9:g.133738357T>C (hg19) chr9:g.130862970T>C (hg38)
CIViC: CA122584
PubMed: PMID:11853795 PMID:11964322 PMID:12399961 PMID:14559829 PMID:14745431 PMID:15256422 PMID:15381060 PMID:18615627 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20697894 PMID:21505103 PMID:21562040 PMID:21895409 PMID:23676790 PMID:24456693 PMID:25157968
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862970T>C , CM000671.2:g.130862970T>C GRCh38
NC_000009.11:g.133738357T>C , CM000671.1:g.133738357T>C GRCh37
NC_000009.10:g.132728178T>C NCBI36
NG_012034.1:g.154090T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372348.9:c.814T>C ENSP00000361423.2:p.Tyr272His
ENST00000318560.6:c.757T>C MANE Select ENSP00000323315.5:p.Tyr253His
ENST00000372348.7:c.814T>C ENSP00000361423.2:p.Tyr272His
ENST00000318560.5:c.757T>C ENSP00000323315.5:p.Tyr253His
ENST00000372348.6:c.814T>C ENSP00000361423.2:p.Tyr272His
NM_005157.5:c.757T>C NP_005148.2:p.Tyr253His
NM_007313.2:c.814T>C NP_009297.2:p.Tyr272His
NM_005157.6:c.757T>C MANE Select NP_005148.2:p.Tyr253His
NM_007313.3:c.814T>C NP_009297.2:p.Tyr272His
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