Canonical Allele Identifier: CA889546

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629974T>G , CM000663.2:g.63629974T>G	GRCh38
NC_000001.10:g.64095645T>G , CM000663.1:g.64095645T>G	GRCh37
NC_000001.9:g.63868233T>G	NCBI36
NG_016966.1:g.41699T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002633.3:c.442T>G MANE Select	NP_002624.2:p.Phe148Val
ENST00000371084.8:c.442T>G MANE Select	ENSP00000360125.3:p.Phe148Val
NM_001172818.1:c.496T>G	NP_001166289.1:p.Phe166Val
NM_001172819.1:c.-150T>G	NP_001166290.1:n.-150T>G
NM_001172819.2:c.-150T>G	NP_001166290.1:n.-150T>G
NM_002633.2:c.442T>G	NP_002624.2:p.Phe148Val
ENST00000371083.4:c.496T>G	ENSP00000360124.4:p.Phe166Val
ENST00000371084.7:c.442T>G	ENSP00000360125.3:p.Phe148Val
ENST00000540265.5:c.-150T>G	ENSP00000443449.1:n.-150T>G
ENST00000650546.1:c.442T>G	ENSP00000497812.1:p.Phe148Val