Canonical Allele Identifier: CA1171571130

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629569T= , CM000663.2:g.63629569T=	GRCh38
NC_000001.10:g.64095240T= , CM000663.1:g.64095240T=	GRCh37
NC_000001.9:g.63867828T=	NCBI36
NG_016966.1:g.41294T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.391T= MANE Select	ENSP00000360125.3:p.Phe131=
ENST00000650546.1:c.391T=	ENSP00000497812.1:p.Phe131=
ENST00000371083.4:c.445T=	ENSP00000360124.4:p.Phe149=
ENST00000371084.7:c.391T=	ENSP00000360125.3:p.Phe131=
ENST00000540265.5:c.-201T=	ENSP00000443449.1:n.-201T=
NM_001172818.1:c.445T=	NP_001166289.1:p.Phe149=
NM_001172819.1:c.-201T=	NP_001166290.1:n.-201T=
NM_002633.2:c.391T=	NP_002624.2:p.Phe131=
NM_002633.3:c.391T= MANE Select	NP_002624.2:p.Phe131=
NM_001172819.2:c.-201T=	NP_001166290.1:n.-201T=