Canonical Allele Identifier: CA5285247
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351561
ClinVar RCV Id: RCV002044819
dbSNP Id: rs756003964
ExAC: 9:133738156 G / A
gnomAD v2: 9-133738156-G-A
gnomAD v3: 9-130862769-G-A
gnomAD v4: 9-130862769-G-A
COSMIC: COSM1106001
MyVariant Identifiers: chr9:g.133738156G>A (hg19) chr9:g.130862769G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862769G>A , CM000671.2:g.130862769G>A GRCh38
NC_000009.11:g.133738156G>A , CM000671.1:g.133738156G>A GRCh37
NC_000009.10:g.132727977G>A NCBI36
NG_012034.1:g.153889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372348.9:c.613G>A ENSP00000361423.2:p.Val205Ile
ENST00000318560.6:c.556G>A MANE Select ENSP00000323315.5:p.Val186Ile
ENST00000372348.7:c.613G>A ENSP00000361423.2:p.Val205Ile
ENST00000318560.5:c.556G>A ENSP00000323315.5:p.Val186Ile
ENST00000372348.6:c.613G>A ENSP00000361423.2:p.Val205Ile
NM_005157.5:c.556G>A NP_005148.2:p.Val186Ile
NM_007313.2:c.613G>A NP_009297.2:p.Val205Ile
NM_005157.6:c.556G>A MANE Select NP_005148.2:p.Val186Ile
NM_007313.3:c.613G>A NP_009297.2:p.Val205Ile
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