Canonical Allele Identifier: CA5285267
Gene: ABL1 HGNC NCBI

Linked Data

dbSNP Id: rs56271006
ExAC: 9:133738259 G / T
gnomAD v2: 9-133738259-G-T
gnomAD v3: 9-130862872-G-T
gnomAD v4: 9-130862872-G-T
MyVariant Identifiers: chr9:g.133738259G>T (hg19) chr9:g.130862872G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862872G>T , CM000671.2:g.130862872G>T GRCh38
NC_000009.11:g.133738259G>T , CM000671.1:g.133738259G>T GRCh37
NC_000009.10:g.132728080G>T NCBI36
NG_012034.1:g.153992G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372348.9:c.716G>T ENSP00000361423.2:p.Arg239Leu
ENST00000318560.6:c.659G>T MANE Select ENSP00000323315.5:p.Arg220Leu
ENST00000372348.7:c.716G>T ENSP00000361423.2:p.Arg239Leu
ENST00000318560.5:c.659G>T ENSP00000323315.5:p.Arg220Leu
ENST00000372348.6:c.716G>T ENSP00000361423.2:p.Arg239Leu
NM_005157.5:c.659G>T NP_005148.2:p.Arg220Leu
NM_007313.2:c.716G>T NP_009297.2:p.Arg239Leu
NM_005157.6:c.659G>T MANE Select NP_005148.2:p.Arg220Leu
NM_007313.3:c.716G>T NP_009297.2:p.Arg239Leu
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