Canonical Allele Identifier: CA889462

Gene: PGM1

Linked Data

• dbSNP Id: rs769610644
• ExAC: 1:64089345 G / A
• gnomAD v2: 1-64089345-G-A
• gnomAD v4: 1-63623674-G-A
• MyVariant Identifiers: chr1:g.64089345G>A (hg19) ; chr1:g.63623674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623674G>A , CM000663.2:g.63623674G>A	GRCh38
NC_000001.10:g.64089345G>A , CM000663.1:g.64089345G>A	GRCh37
NC_000001.9:g.63861933G>A	NCBI36
NG_016966.1:g.35399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5751G>A MANE Select	ENSP00000360125.3:n.247-5751G>A
ENST00000650546.1:c.247-5751G>A	ENSP00000497812.1:n.247-5751G>A
ENST00000371083.4:c.214G>A	ENSP00000360124.4:p.Gly72Arg
ENST00000371084.7:c.247-5751G>A	ENSP00000360125.3:n.247-5751G>A
ENST00000540265.5:c.-345-5751G>A	ENSP00000443449.1:n.-345-5751G>A
NM_001172818.1:c.214G>A	NP_001166289.1:p.Gly72Arg
NM_001172819.1:c.-345-5751G>A	NP_001166290.1:n.-345-5751G>A
NM_002633.2:c.247-5751G>A	NP_002624.2:n.247-5751G>A
NM_002633.3:c.247-5751G>A MANE Select	NP_002624.2:n.247-5751G>A
NM_001172819.2:c.-345-5751G>A	NP_001166290.1:n.-345-5751G>A