Canonical Allele Identifier: CA889528

Gene: PGM1

Linked Data

• dbSNP Id: rs749743005
• ExAC: 1:64095303 A / T
• gnomAD v2: 1-64095303-A-T
• gnomAD v4: 1-63629632-A-T
• MyVariant Identifiers: chr1:g.64095303A>T (hg19) ; chr1:g.63629632A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629632A>T , CM000663.2:g.63629632A>T	GRCh38
NC_000001.10:g.64095303A>T , CM000663.1:g.64095303A>T	GRCh37
NC_000001.9:g.63867891A>T	NCBI36
NG_016966.1:g.41357A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+45A>T MANE Select	ENSP00000360125.3:n.409+45A>T
ENST00000650546.1:c.409+45A>T	ENSP00000497812.1:n.409+45A>T
ENST00000371083.4:c.463+45A>T	ENSP00000360124.4:n.463+45A>T
ENST00000371084.7:c.409+45A>T	ENSP00000360125.3:n.409+45A>T
ENST00000540265.5:c.-183+45A>T	ENSP00000443449.1:n.-183+45A>T
NM_001172818.1:c.463+45A>T	NP_001166289.1:n.463+45A>T
NM_001172819.1:c.-183+45A>T	NP_001166290.1:n.-183+45A>T
NM_002633.2:c.409+45A>T	NP_002624.2:n.409+45A>T
NM_002633.3:c.409+45A>T MANE Select	NP_002624.2:n.409+45A>T
NM_001172819.2:c.-183+45A>T	NP_001166290.1:n.-183+45A>T