Canonical Allele Identifier: CA5285360

Gene: ABL1

Linked Data

• ClinVar Variation Id: 1570129
• ClinVar RCV Id: RCV002215145
• dbSNP Id: rs560686582
• ExAC: 9:133748334 G / A
• gnomAD v2: 9-133748334-G-A
• gnomAD v3: 9-130872947-G-A
• gnomAD v4: 9-130872947-G-A
• MyVariant Identifiers: chr9:g.133748334G>A (hg19) ; chr9:g.130872947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130872947G>A , CM000671.2:g.130872947G>A	GRCh38
NC_000009.11:g.133748334G>A , CM000671.1:g.133748334G>A	GRCh37
NC_000009.10:g.132738155G>A	NCBI36
NG_012034.1:g.164067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372348.9:c.1052G>A	ENSP00000361423.2:p.Arg351Gln
ENST00000318560.6:c.995G>A MANE Select	ENSP00000323315.5:p.Arg332Gln
ENST00000372348.7:c.1052G>A	ENSP00000361423.2:p.Arg351Gln
ENST00000318560.5:c.995G>A	ENSP00000323315.5:p.Arg332Gln
ENST00000372348.6:c.1052G>A	ENSP00000361423.2:p.Arg351Gln
NM_005157.5:c.995G>A	NP_005148.2:p.Arg332Gln
NM_007313.2:c.1052G>A	NP_009297.2:p.Arg351Gln
NM_005157.6:c.995G>A MANE Select	NP_005148.2:p.Arg332Gln
NM_007313.3:c.1052G>A	NP_009297.2:p.Arg351Gln