Canonical Allele Identifier: CA889782

Gene: PGM1

Linked Data

• dbSNP Id: rs772697173
• ExAC: 1:64114309 G / A
• gnomAD v2: 1-64114309-G-A
• gnomAD v4: 1-63648638-G-A
• MyVariant Identifiers: chr1:g.64114309G>A (hg19) ; chr1:g.63648638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648638G>A , CM000663.2:g.63648638G>A	GRCh38
NC_000001.10:g.64114309G>A , CM000663.1:g.64114309G>A	GRCh37
NC_000001.9:g.63886897G>A	NCBI36
NG_016966.1:g.60363G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1266G>A MANE Select	ENSP00000360125.3:p.Arg422=
ENST00000650546.1:c.1266G>A	ENSP00000497812.1:p.Arg422=
ENST00000371083.4:c.1320G>A	ENSP00000360124.4:p.Arg440=
ENST00000371084.7:c.1266G>A	ENSP00000360125.3:p.Arg422=
ENST00000540265.5:c.675G>A	ENSP00000443449.1:p.Arg225=
NM_001172818.1:c.1320G>A	NP_001166289.1:p.Arg440=
NM_001172819.1:c.675G>A	NP_001166290.1:p.Arg225=
NM_002633.2:c.1266G>A	NP_002624.2:p.Arg422=
NM_002633.3:c.1266G>A MANE Select	NP_002624.2:p.Arg422=
NM_001172819.2:c.675G>A	NP_001166290.1:p.Arg225=