Canonical Allele Identifier: CA5285352

Gene: ABL1

Linked Data

• ClinVar Variation Id: 2368770
• ClinVar RCV Id: RCV002985103 ; RCV003730346
• dbSNP Id: rs146342596
• ExAC: 9:133748298 A / G
• gnomAD v2: 9-133748298-A-G
• gnomAD v3: 9-130872911-A-G
• gnomAD v4: 9-130872911-A-G
• MyVariant Identifiers: chr9:g.133748298A>G (hg19) ; chr9:g.130872911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130872911A>G , CM000671.2:g.130872911A>G	GRCh38
NC_000009.11:g.133748298A>G , CM000671.1:g.133748298A>G	GRCh37
NC_000009.10:g.132738119A>G	NCBI36
NG_012034.1:g.164031A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372348.9:c.1016A>G	ENSP00000361423.2:p.Tyr339Cys
ENST00000318560.6:c.959A>G MANE Select	ENSP00000323315.5:p.Tyr320Cys
ENST00000372348.7:c.1016A>G	ENSP00000361423.2:p.Tyr339Cys
ENST00000318560.5:c.959A>G	ENSP00000323315.5:p.Tyr320Cys
ENST00000372348.6:c.1016A>G	ENSP00000361423.2:p.Tyr339Cys
NM_005157.5:c.959A>G	NP_005148.2:p.Tyr320Cys
NM_007313.2:c.1016A>G	NP_009297.2:p.Tyr339Cys
NM_005157.6:c.959A>G MANE Select	NP_005148.2:p.Tyr320Cys
NM_007313.3:c.1016A>G	NP_009297.2:p.Tyr339Cys