Canonical Allele Identifier: CA1171571089

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629460C= , CM000663.2:g.63629460C=	GRCh38
NC_000001.10:g.64095131C= , CM000663.1:g.64095131C=	GRCh37
NC_000001.9:g.63867719C=	NCBI36
NG_016966.1:g.41185C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.282C= MANE Select	ENSP00000360125.3:p.Leu94=
ENST00000650546.1:c.282C=	ENSP00000497812.1:p.Leu94=
ENST00000371083.4:c.336C=	ENSP00000360124.4:p.Leu112=
ENST00000371084.7:c.282C=	ENSP00000360125.3:p.Leu94=
ENST00000540265.5:c.-310C=	ENSP00000443449.1:n.-310C=
NM_001172818.1:c.336C=	NP_001166289.1:p.Leu112=
NM_001172819.1:c.-310C=	NP_001166290.1:n.-310C=
NM_002633.2:c.282C=	NP_002624.2:p.Leu94=
NM_002633.3:c.282C= MANE Select	NP_002624.2:p.Leu94=
NM_001172819.2:c.-310C=	NP_001166290.1:n.-310C=