Canonical Allele Identifier: CA889889

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63654410C>T , CM000663.2:g.63654410C>T	GRCh38
NC_000001.10:g.64120081C>T , CM000663.1:g.64120081C>T	GRCh37
NC_000001.9:g.63892669C>T	NCBI36
NG_016966.1:g.66135C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002633.3:c.1543C>T MANE Select	NP_002624.2:p.Arg515Trp
ENST00000371084.8:c.1543C>T MANE Select	ENSP00000360125.3:p.Arg515Trp
NM_001172818.1:c.1597C>T	NP_001166289.1:p.Arg533Trp
NM_001172819.1:c.952C>T	NP_001166290.1:p.Arg318Trp
NM_001172819.2:c.952C>T	NP_001166290.1:p.Arg318Trp
NM_002633.2:c.1543C>T	NP_002624.2:p.Arg515Trp
ENST00000371083.4:c.1597C>T	ENSP00000360124.4:p.Arg533Trp
ENST00000371084.7:c.1543C>T	ENSP00000360125.3:p.Arg515Trp
ENST00000483707.1:n.577C>T
ENST00000540265.5:c.952C>T	ENSP00000443449.1:p.Arg318Trp
ENST00000650546.1:c.1543C>T	ENSP00000497812.1:p.Arg515Trp