Canonical Allele Identifier: CA375263051
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477252
ClinVar RCV Id: RCV001998320
dbSNP Id: rs1235886447
gnomAD v2: 9-133738319-C-T
gnomAD v3: 9-130862932-C-T
gnomAD v4: 9-130862932-C-T
MyVariant Identifiers: chr9:g.133738319C>T (hg19) chr9:g.130862932C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862932C>T , CM000671.2:g.130862932C>T GRCh38
NC_000009.11:g.133738319C>T , CM000671.1:g.133738319C>T GRCh37
NC_000009.10:g.132728140C>T NCBI36
NG_012034.1:g.154052C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372348.9:c.776C>T ENSP00000361423.2:p.Thr259Met
ENST00000318560.6:c.719C>T MANE Select ENSP00000323315.5:p.Thr240Met
ENST00000372348.7:c.776C>T ENSP00000361423.2:p.Thr259Met
ENST00000318560.5:c.719C>T ENSP00000323315.5:p.Thr240Met
ENST00000372348.6:c.776C>T ENSP00000361423.2:p.Thr259Met
NM_005157.5:c.719C>T NP_005148.2:p.Thr240Met
NM_007313.2:c.776C>T NP_009297.2:p.Thr259Met
NM_005157.6:c.719C>T MANE Select NP_005148.2:p.Thr240Met
NM_007313.3:c.776C>T NP_009297.2:p.Thr259Met
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