Canonical Allele Identifier: CA340646186

Gene: PGM1

Linked Data

• dbSNP Id: rs1649134735
• gnomAD v4: 1-63629542-G-T
• MyVariant Identifiers: chr1:g.64095213G>T (hg19) ; chr1:g.63629542G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629542G>T , CM000663.2:g.63629542G>T	GRCh38
NC_000001.10:g.64095213G>T , CM000663.1:g.64095213G>T	GRCh37
NC_000001.9:g.63867801G>T	NCBI36
NG_016966.1:g.41267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.364G>T MANE Select	ENSP00000360125.3:p.Gly122Cys
ENST00000650546.1:c.364G>T	ENSP00000497812.1:p.Gly122Cys
ENST00000371083.4:c.418G>T	ENSP00000360124.4:p.Gly140Cys
ENST00000371084.7:c.364G>T	ENSP00000360125.3:p.Gly122Cys
ENST00000540265.5:c.-228G>T	ENSP00000443449.1:n.-228G>T
NM_001172818.1:c.418G>T	NP_001166289.1:p.Gly140Cys
NM_001172819.1:c.-228G>T	NP_001166290.1:n.-228G>T
NM_002633.2:c.364G>T	NP_002624.2:p.Gly122Cys
NM_002633.3:c.364G>T MANE Select	NP_002624.2:p.Gly122Cys
NM_001172819.2:c.-228G>T	NP_001166290.1:n.-228G>T