Canonical Allele Identifier: CA1148224362

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63654414T= , CM000663.2:g.63654414T=	GRCh38
NC_000001.10:g.64120085T= , CM000663.1:g.64120085T=	GRCh37
NC_000001.9:g.63892673T=	NCBI36
NG_016966.1:g.66139T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1547T= MANE Select	ENSP00000360125.3:p.Leu516=
ENST00000650546.1:c.1547T=	ENSP00000497812.1:p.Leu516=
ENST00000371083.4:c.1601T=	ENSP00000360124.4:p.Leu534=
ENST00000371084.7:c.1547T=	ENSP00000360125.3:p.Leu516=
ENST00000483707.1:n.581T=
ENST00000540265.5:c.956T=	ENSP00000443449.1:p.Leu319=
NM_001172818.1:c.1601T=	NP_001166289.1:p.Leu534=
NM_001172819.1:c.956T=	NP_001166290.1:p.Leu319=
NM_002633.2:c.1547T=	NP_002624.2:p.Leu516=
NM_002633.3:c.1547T= MANE Select	NP_002624.2:p.Leu516=
NM_001172819.2:c.956T=	NP_001166290.1:p.Leu319=