Canonical Allele Identifier: CA1171571109

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629517T= , CM000663.2:g.63629517T=	GRCh38
NC_000001.10:g.64095188T= , CM000663.1:g.64095188T=	GRCh37
NC_000001.9:g.63867776T=	NCBI36
NG_016966.1:g.41242T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.339T= MANE Select	ENSP00000360125.3:p.Ile113=
ENST00000650546.1:c.339T=	ENSP00000497812.1:p.Ile113=
ENST00000371083.4:c.393T=	ENSP00000360124.4:p.Ile131=
ENST00000371084.7:c.339T=	ENSP00000360125.3:p.Ile113=
ENST00000540265.5:c.-253T=	ENSP00000443449.1:n.-253T=
NM_001172818.1:c.393T=	NP_001166289.1:p.Ile131=
NM_001172819.1:c.-253T=	NP_001166290.1:n.-253T=
NM_002633.2:c.339T=	NP_002624.2:p.Ile113=
NM_002633.3:c.339T= MANE Select	NP_002624.2:p.Ile113=
NM_001172819.2:c.-253T=	NP_001166290.1:n.-253T=