Canonical Allele Identifier: CA474958901
Gene: PYGM HGNC NCBI

Linked Data

COSMIC: COSM4425119
MyVariant Identifiers: chr11:g.64518885G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751413G>T , CM000673.2:g.64751413G>T GRCh38
NC_000011.9:g.64518885G>T , CM000673.1:g.64518885G>T GRCh37
NC_000011.8:g.64275461G>T NCBI36
NG_013018.1:g.14303C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1881C>A MANE Select ENSP00000164139.3:p.Ile627=
ENST00000164139.3:c.1881C>A ENSP00000164139.3:p.Ile627=
ENST00000377432.7:c.1617C>A ENSP00000366650.3:p.Ile539=
ENST00000462303.1:n.205C>A
NM_001164716.1:c.1617C>A NP_001158188.1:p.Ile539=
NM_005609.2:c.1881C>A NP_005600.1:p.Ile627=
NM_005609.3:c.1881C>A NP_005600.1:p.Ile627=
NM_005609.4:c.1881C>A MANE Select NP_005600.1:p.Ile627=
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