Canonical Allele Identifier: CA5285266

Gene: ABL1

Linked Data

• dbSNP Id: rs753573200
• ExAC: 9:133738258 C / T
• gnomAD v2: 9-133738258-C-T
• gnomAD v4: 9-130862871-C-T
• MyVariant Identifiers: chr9:g.133738258C>T (hg19) ; chr9:g.130862871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130862871C>T , CM000671.2:g.130862871C>T	GRCh38
NC_000009.11:g.133738258C>T , CM000671.1:g.133738258C>T	GRCh37
NC_000009.10:g.132728079C>T	NCBI36
NG_012034.1:g.153991C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372348.9:c.715C>T	ENSP00000361423.2:p.Arg239Cys
ENST00000318560.6:c.658C>T MANE Select	ENSP00000323315.5:p.Arg220Cys
ENST00000372348.7:c.715C>T	ENSP00000361423.2:p.Arg239Cys
ENST00000318560.5:c.658C>T	ENSP00000323315.5:p.Arg220Cys
ENST00000372348.6:c.715C>T	ENSP00000361423.2:p.Arg239Cys
NM_005157.5:c.658C>T	NP_005148.2:p.Arg220Cys
NM_007313.2:c.715C>T	NP_009297.2:p.Arg239Cys
NM_005157.6:c.658C>T MANE Select	NP_005148.2:p.Arg220Cys
NM_007313.3:c.715C>T	NP_009297.2:p.Arg239Cys