Canonical Allele Identifier: CA418197591
Gene: PGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64114207G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63648536G>A , CM000663.2:g.63648536G>A GRCh38
NC_000001.10:g.64114207G>A , CM000663.1:g.64114207G>A GRCh37
NC_000001.9:g.63886795G>A NCBI36
NG_016966.1:g.60261G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371084.8:c.1164G>A MANE Select ENSP00000360125.3:p.Glu388=
ENST00000650546.1:c.1164G>A ENSP00000497812.1:p.Glu388=
ENST00000371083.4:c.1218G>A ENSP00000360124.4:p.Glu406=
ENST00000371084.7:c.1164G>A ENSP00000360125.3:p.Glu388=
ENST00000540265.5:c.573G>A ENSP00000443449.1:p.Glu191=
NM_001172818.1:c.1218G>A NP_001166289.1:p.Glu406=
NM_001172819.1:c.573G>A NP_001166290.1:p.Glu191=
NM_002633.2:c.1164G>A NP_002624.2:p.Glu388=
NM_002633.3:c.1164G>A MANE Select NP_002624.2:p.Glu388=
NM_001172819.2:c.573G>A NP_001166290.1:p.Glu191=
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