Canonical Allele Identifier: CA340639614

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63654411G>A , CM000663.2:g.63654411G>A	GRCh38
NC_000001.10:g.64120082G>A , CM000663.1:g.64120082G>A	GRCh37
NC_000001.9:g.63892670G>A	NCBI36
NG_016966.1:g.66136G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002633.3:c.1544G>A MANE Select	NP_002624.2:p.Arg515Gln
ENST00000371084.8:c.1544G>A MANE Select	ENSP00000360125.3:p.Arg515Gln
NM_001172818.1:c.1598G>A	NP_001166289.1:p.Arg533Gln
NM_001172819.1:c.953G>A	NP_001166290.1:p.Arg318Gln
NM_001172819.2:c.953G>A	NP_001166290.1:p.Arg318Gln
NM_002633.2:c.1544G>A	NP_002624.2:p.Arg515Gln
ENST00000371083.4:c.1598G>A	ENSP00000360124.4:p.Arg533Gln
ENST00000371084.7:c.1544G>A	ENSP00000360125.3:p.Arg515Gln
ENST00000483707.1:n.578G>A
ENST00000540265.5:c.953G>A	ENSP00000443449.1:p.Arg318Gln
ENST00000650546.1:c.1544G>A	ENSP00000497812.1:p.Arg515Gln