Canonical Allele Identifier: CA889755

Gene: PGM1

Linked Data

• dbSNP Id: rs747167891
• ExAC: 1:64114202 C / T
• gnomAD v2: 1-64114202-C-T
• gnomAD v3: 1-63648531-C-T
• gnomAD v4: 1-63648531-C-T
• MyVariant Identifiers: chr1:g.64114202C>T (hg19) ; chr1:g.63648531C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1159C>T MANE Select	ENSP00000360125.3:p.Arg387Cys
ENST00000650546.1:c.1159C>T	ENSP00000497812.1:p.Arg387Cys
ENST00000371083.4:c.1213C>T	ENSP00000360124.4:p.Arg405Cys
ENST00000371084.7:c.1159C>T	ENSP00000360125.3:p.Arg387Cys
ENST00000540265.5:c.568C>T	ENSP00000443449.1:p.Arg190Cys
NM_001172818.1:c.1213C>T	NP_001166289.1:p.Arg405Cys
NM_001172819.1:c.568C>T	NP_001166290.1:p.Arg190Cys
NM_002633.2:c.1159C>T	NP_002624.2:p.Arg387Cys
NM_002633.3:c.1159C>T MANE Select	NP_002624.2:p.Arg387Cys
NM_001172819.2:c.568C>T	NP_001166290.1:p.Arg190Cys