Canonical Allele Identifier: CA16602554

Gene: ABL1

Linked Data

• ClinVar Variation Id: 376093
• ClinVar RCV Id: RCV000424701
• dbSNP Id: rs121913451
• COSMIC: COSM131573
• MyVariant Identifiers: chr9:g.133748290C>A (hg19) ; chr9:g.130872903C>A (hg38)
• PubMed: PMID:12623848 ; PMID:17114651 ; PMID:18828913 ; PMID:20367437 ; PMID:21489624 ; PMID:21562040 ; PMID:21895409 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130872903C>A , CM000671.2:g.130872903C>A	GRCh38
NC_000009.11:g.133748290C>A , CM000671.1:g.133748290C>A	GRCh37
NC_000009.10:g.132738111C>A	NCBI36
NG_012034.1:g.164023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372348.9:c.1008C>A	ENSP00000361423.2:p.Phe336Leu
ENST00000318560.6:c.951C>A MANE Select	ENSP00000323315.5:p.Phe317Leu
ENST00000372348.7:c.1008C>A	ENSP00000361423.2:p.Phe336Leu
ENST00000318560.5:c.951C>A	ENSP00000323315.5:p.Phe317Leu
ENST00000372348.6:c.1008C>A	ENSP00000361423.2:p.Phe336Leu
NM_005157.5:c.951C>A	NP_005148.2:p.Phe317Leu
NM_007313.2:c.1008C>A	NP_009297.2:p.Phe336Leu
NM_005157.6:c.951C>A MANE Select	NP_005148.2:p.Phe317Leu
NM_007313.3:c.1008C>A	NP_009297.2:p.Phe336Leu