Canonical Allele Identifier: CA5285360
Gene: ABL1 HGNC NCBI

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)
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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
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