Canonical Allele Identifier: CA889523

Gene: PGM1

Linked Data

• dbSNP Id: rs756928401
• ExAC: 1:64095270 G / T
• gnomAD v2: 1-64095270-G-T
• gnomAD v4: 1-63629599-G-T
• MyVariant Identifiers: chr1:g.64095270G>T (hg19) ; chr1:g.63629599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629599G>T , CM000663.2:g.63629599G>T	GRCh38
NC_000001.10:g.64095270G>T , CM000663.1:g.64095270G>T	GRCh37
NC_000001.9:g.63867858G>T	NCBI36
NG_016966.1:g.41324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+12G>T MANE Select	ENSP00000360125.3:n.409+12G>T
ENST00000650546.1:c.409+12G>T	ENSP00000497812.1:n.409+12G>T
ENST00000371083.4:c.463+12G>T	ENSP00000360124.4:n.463+12G>T
ENST00000371084.7:c.409+12G>T	ENSP00000360125.3:n.409+12G>T
ENST00000540265.5:c.-183+12G>T	ENSP00000443449.1:n.-183+12G>T
NM_001172818.1:c.463+12G>T	NP_001166289.1:n.463+12G>T
NM_001172819.1:c.-183+12G>T	NP_001166290.1:n.-183+12G>T
NM_002633.2:c.409+12G>T	NP_002624.2:n.409+12G>T
NM_002633.3:c.409+12G>T MANE Select	NP_002624.2:n.409+12G>T
NM_001172819.2:c.-183+12G>T	NP_001166290.1:n.-183+12G>T