Canonical Allele Identifier: CA5285400

Gene: ABL1

Linked Data

• dbSNP Id: rs777780369
• ExAC: 9:133750360 T / C
• gnomAD v2: 9-133750360-T-C
• gnomAD v4: 9-130874973-T-C
• MyVariant Identifiers: chr9:g.133750360T>C (hg19) ; chr9:g.130874973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130874973T>C , CM000671.2:g.130874973T>C	GRCh38
NC_000009.11:g.133750360T>C , CM000671.1:g.133750360T>C	GRCh37
NC_000009.10:g.132740181T>C	NCBI36
NG_012034.1:g.166093T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372348.9:c.1248T>C	ENSP00000361423.2:p.Ala416=
ENST00000318560.6:c.1191T>C MANE Select	ENSP00000323315.5:p.Ala397=
ENST00000372348.7:c.1248T>C	ENSP00000361423.2:p.Ala416=
ENST00000318560.5:c.1191T>C	ENSP00000323315.5:p.Ala397=
ENST00000372348.6:c.1248T>C	ENSP00000361423.2:p.Ala416=
NM_005157.5:c.1191T>C	NP_005148.2:p.Ala397=
NM_007313.2:c.1248T>C	NP_009297.2:p.Ala416=
NM_005157.6:c.1191T>C MANE Select	NP_005148.2:p.Ala397=
NM_007313.3:c.1248T>C	NP_009297.2:p.Ala416=