Canonical Allele Identifier: CA5285355
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450798
ClinVar RCV Id: RCV001992947
dbSNP Id: rs139597295
ExAC: 9:133748330 A / G
gnomAD v2: 9-133748330-A-G
gnomAD v3: 9-130872943-A-G
gnomAD v4: 9-130872943-A-G
MyVariant Identifiers: chr9:g.133748330A>G (hg19) chr9:g.130872943A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130872943A>G , CM000671.2:g.130872943A>G GRCh38
NC_000009.11:g.133748330A>G , CM000671.1:g.133748330A>G GRCh37
NC_000009.10:g.132738151A>G NCBI36
NG_012034.1:g.164063A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372348.9:c.1048A>G ENSP00000361423.2:p.Asn350Asp
ENST00000318560.6:c.991A>G MANE Select ENSP00000323315.5:p.Asn331Asp
ENST00000372348.7:c.1048A>G ENSP00000361423.2:p.Asn350Asp
ENST00000318560.5:c.991A>G ENSP00000323315.5:p.Asn331Asp
ENST00000372348.6:c.1048A>G ENSP00000361423.2:p.Asn350Asp
NM_005157.5:c.991A>G NP_005148.2:p.Asn331Asp
NM_007313.2:c.1048A>G NP_009297.2:p.Asn350Asp
NM_005157.6:c.991A>G MANE Select NP_005148.2:p.Asn331Asp
NM_007313.3:c.1048A>G NP_009297.2:p.Asn350Asp
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