Canonical Allele Identifier: CA1171578782

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648642T= , CM000663.2:g.63648642T=	GRCh38
NC_000001.10:g.64114313T= , CM000663.1:g.64114313T=	GRCh37
NC_000001.9:g.63886901T=	NCBI36
NG_016966.1:g.60367T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1270T= MANE Select	ENSP00000360125.3:p.Phe424=
ENST00000650546.1:c.1270T=	ENSP00000497812.1:p.Phe424=
ENST00000371083.4:c.1324T=	ENSP00000360124.4:p.Phe442=
ENST00000371084.7:c.1270T=	ENSP00000360125.3:p.Phe424=
ENST00000540265.5:c.679T=	ENSP00000443449.1:p.Phe227=
NM_001172818.1:c.1324T=	NP_001166289.1:p.Phe442=
NM_001172819.1:c.679T=	NP_001166290.1:p.Phe227=
NM_002633.2:c.1270T=	NP_002624.2:p.Phe424=
NM_002633.3:c.1270T= MANE Select	NP_002624.2:p.Phe424=
NM_001172819.2:c.679T=	NP_001166290.1:p.Phe227=