Canonical Allele Identifier: CA889592

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63631761C>T , CM000663.2:g.63631761C>T	GRCh38
NC_000001.10:g.64097432C>T , CM000663.1:g.64097432C>T	GRCh37
NC_000001.9:g.63870020C>T	NCBI36
NG_016966.1:g.43486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.661C>T MANE Select	ENSP00000360125.3:p.Arg221Cys
ENST00000650546.1:c.661C>T	ENSP00000497812.1:p.Arg221Cys
ENST00000371083.4:c.715C>T	ENSP00000360124.4:p.Arg239Cys
ENST00000371084.7:c.661C>T	ENSP00000360125.3:p.Arg221Cys
ENST00000540265.5:c.70C>T	ENSP00000443449.1:p.Arg24Cys
NM_001172818.1:c.715C>T	NP_001166289.1:p.Arg239Cys
NM_001172819.1:c.70C>T	NP_001166290.1:p.Arg24Cys
NM_002633.2:c.661C>T	NP_002624.2:p.Arg221Cys
NM_002633.3:c.661C>T MANE Select	NP_002624.2:p.Arg221Cys
NM_001172819.2:c.70C>T	NP_001166290.1:p.Arg24Cys