Canonical Allele Identifier: CA340638247

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64114215G>A (hg19) ; chr1:g.63648544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648544G>A , CM000663.2:g.63648544G>A	GRCh38
NC_000001.10:g.64114215G>A , CM000663.1:g.64114215G>A	GRCh37
NC_000001.9:g.63886803G>A	NCBI36
NG_016966.1:g.60269G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1172G>A MANE Select	ENSP00000360125.3:p.Gly391Glu
ENST00000650546.1:c.1172G>A	ENSP00000497812.1:p.Gly391Glu
ENST00000371083.4:c.1226G>A	ENSP00000360124.4:p.Gly409Glu
ENST00000371084.7:c.1172G>A	ENSP00000360125.3:p.Gly391Glu
ENST00000540265.5:c.581G>A	ENSP00000443449.1:p.Gly194Glu
NM_001172818.1:c.1226G>A	NP_001166289.1:p.Gly409Glu
NM_001172819.1:c.581G>A	NP_001166290.1:p.Gly194Glu
NM_002633.2:c.1172G>A	NP_002624.2:p.Gly391Glu
NM_002633.3:c.1172G>A MANE Select	NP_002624.2:p.Gly391Glu
NM_001172819.2:c.581G>A	NP_001166290.1:p.Gly194Glu