Canonical Allele Identifier: CA889712

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63638721C>A , CM000663.2:g.63638721C>A	GRCh38
NC_000001.10:g.64104392C>A , CM000663.1:g.64104392C>A	GRCh37
NC_000001.9:g.63876980C>A	NCBI36
NG_016966.1:g.50446C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002633.3:c.1065C>A MANE Select	NP_002624.2:p.Thr355=
ENST00000371084.8:c.1065C>A MANE Select	ENSP00000360125.3:p.Thr355=
NM_001172818.1:c.1119C>A	NP_001166289.1:p.Thr373=
NM_001172819.1:c.474C>A	NP_001166290.1:p.Thr158=
NM_001172819.2:c.474C>A	NP_001166290.1:p.Thr158=
NM_002633.2:c.1065C>A	NP_002624.2:p.Thr355=
ENST00000371083.4:c.1119C>A	ENSP00000360124.4:p.Thr373=
ENST00000371084.7:c.1065C>A	ENSP00000360125.3:p.Thr355=
ENST00000540265.5:c.474C>A	ENSP00000443449.1:p.Thr158=
ENST00000650546.1:c.1065C>A	ENSP00000497812.1:p.Thr355=