Canonical Allele Identifier: CA340638194

Gene: PGM1

Linked Data

• gnomAD v4: 1-63648531-C-G
• MyVariant Identifiers: chr1:g.64114202C>G (hg19) ; chr1:g.63648531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648531C>G , CM000663.2:g.63648531C>G	GRCh38
NC_000001.10:g.64114202C>G , CM000663.1:g.64114202C>G	GRCh37
NC_000001.9:g.63886790C>G	NCBI36
NG_016966.1:g.60256C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1159C>G MANE Select	ENSP00000360125.3:p.Arg387Gly
ENST00000650546.1:c.1159C>G	ENSP00000497812.1:p.Arg387Gly
ENST00000371083.4:c.1213C>G	ENSP00000360124.4:p.Arg405Gly
ENST00000371084.7:c.1159C>G	ENSP00000360125.3:p.Arg387Gly
ENST00000540265.5:c.568C>G	ENSP00000443449.1:p.Arg190Gly
NM_001172818.1:c.1213C>G	NP_001166289.1:p.Arg405Gly
NM_001172819.1:c.568C>G	NP_001166290.1:p.Arg190Gly
NM_002633.2:c.1159C>G	NP_002624.2:p.Arg387Gly
NM_002633.3:c.1159C>G MANE Select	NP_002624.2:p.Arg387Gly
NM_001172819.2:c.568C>G	NP_001166290.1:p.Arg190Gly