Canonical Allele Identifier: CA16602794
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376352
ClinVar RCV Id: RCV000444847
dbSNP Id: rs1057519773
COSMIC: COSM49074
MyVariant Identifiers: chr9:g.133748288T>C (hg19) chr9:g.130872901T>C (hg38)
PubMed: PMID:18818391 PMID:24236021 PMID:25349473
CIViC: CA16602794
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130872901T>C , CM000671.2:g.130872901T>C GRCh38
NC_000009.11:g.133748288T>C , CM000671.1:g.133748288T>C GRCh37
NC_000009.10:g.132738109T>C NCBI36
NG_012034.1:g.164021T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372348.9:c.1006T>C ENSP00000361423.2:p.Phe336Leu
ENST00000318560.6:c.949T>C MANE Select ENSP00000323315.5:p.Phe317Leu
ENST00000372348.7:c.1006T>C ENSP00000361423.2:p.Phe336Leu
ENST00000318560.5:c.949T>C ENSP00000323315.5:p.Phe317Leu
ENST00000372348.6:c.1006T>C ENSP00000361423.2:p.Phe336Leu
NM_005157.5:c.949T>C NP_005148.2:p.Phe317Leu
NM_007313.2:c.1006T>C NP_009297.2:p.Phe336Leu
NM_005157.6:c.949T>C MANE Select NP_005148.2:p.Phe317Leu
NM_007313.3:c.1006T>C NP_009297.2:p.Phe336Leu
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