Canonical Allele Identifier: CA375263007

Gene: ABL1

Linked Data

• ClinVar Variation Id: 2706704
• ClinVar RCV Id: RCV003552121
• dbSNP Id: rs2132973905
• gnomAD v4: 9-130862928-C-T
• MyVariant Identifiers: chr9:g.133738315C>T (hg19) ; chr9:g.130862928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130862928C>T , CM000671.2:g.130862928C>T	GRCh38
NC_000009.11:g.133738315C>T , CM000671.1:g.133738315C>T	GRCh37
NC_000009.10:g.132728136C>T	NCBI36
NG_012034.1:g.154048C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372348.9:c.772C>T	ENSP00000361423.2:p.Arg258Cys
ENST00000318560.6:c.715C>T MANE Select	ENSP00000323315.5:p.Arg239Cys
ENST00000372348.7:c.772C>T	ENSP00000361423.2:p.Arg258Cys
ENST00000318560.5:c.715C>T	ENSP00000323315.5:p.Arg239Cys
ENST00000372348.6:c.772C>T	ENSP00000361423.2:p.Arg258Cys
NM_005157.5:c.715C>T	NP_005148.2:p.Arg239Cys
NM_007313.2:c.772C>T	NP_009297.2:p.Arg258Cys
NM_005157.6:c.715C>T MANE Select	NP_005148.2:p.Arg239Cys
NM_007313.3:c.772C>T	NP_009297.2:p.Arg258Cys