Canonical Allele Identifier: CA375249514

Gene: ABL1

Linked Data

• gnomAD v4: 9-130872940-T-C
• MyVariant Identifiers: chr9:g.133748327T>C (hg19) ; chr9:g.130872940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130872940T>C , CM000671.2:g.130872940T>C	GRCh38
NC_000009.11:g.133748327T>C , CM000671.1:g.133748327T>C	GRCh37
NC_000009.10:g.132738148T>C	NCBI36
NG_012034.1:g.164060T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372348.9:c.1045T>C	ENSP00000361423.2:p.Cys349Arg
ENST00000318560.6:c.988T>C MANE Select	ENSP00000323315.5:p.Cys330Arg
ENST00000372348.7:c.1045T>C	ENSP00000361423.2:p.Cys349Arg
ENST00000318560.5:c.988T>C	ENSP00000323315.5:p.Cys330Arg
ENST00000372348.6:c.1045T>C	ENSP00000361423.2:p.Cys349Arg
NM_005157.5:c.988T>C	NP_005148.2:p.Cys330Arg
NM_007313.2:c.1045T>C	NP_009297.2:p.Cys349Arg
NM_005157.6:c.988T>C MANE Select	NP_005148.2:p.Cys330Arg
NM_007313.3:c.1045T>C	NP_009297.2:p.Cys349Arg