Canonical Allele Identifier: CA340646142

Gene: PGM1

Linked Data

• dbSNP Id: rs1649134335
• gnomAD v4: 1-63629537-C-T
• COSMIC: COSM5705519 ; COSM5705520
• MyVariant Identifiers: chr1:g.64095208C>T (hg19) ; chr1:g.63629537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629537C>T , CM000663.2:g.63629537C>T	GRCh38
NC_000001.10:g.64095208C>T , CM000663.1:g.64095208C>T	GRCh37
NC_000001.9:g.63867796C>T	NCBI36
NG_016966.1:g.41262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.359C>T MANE Select	ENSP00000360125.3:p.Pro120Leu
ENST00000650546.1:c.359C>T	ENSP00000497812.1:p.Pro120Leu
ENST00000371083.4:c.413C>T	ENSP00000360124.4:p.Pro138Leu
ENST00000371084.7:c.359C>T	ENSP00000360125.3:p.Pro120Leu
ENST00000540265.5:c.-233C>T	ENSP00000443449.1:n.-233C>T
NM_001172818.1:c.413C>T	NP_001166289.1:p.Pro138Leu
NM_001172819.1:c.-233C>T	NP_001166290.1:n.-233C>T
NM_002633.2:c.359C>T	NP_002624.2:p.Pro120Leu
NM_002633.3:c.359C>T MANE Select	NP_002624.2:p.Pro120Leu
NM_001172819.2:c.-233C>T	NP_001166290.1:n.-233C>T