Canonical Allele Identifier: CA340645422

Gene: PGM1

Linked Data

• dbSNP Id: rs1308511947
• gnomAD v4: 1-63629425-A-G
• MyVariant Identifiers: chr1:g.64095096A>G (hg19) ; chr1:g.63629425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629425A>G , CM000663.2:g.63629425A>G	GRCh38
NC_000001.10:g.64095096A>G , CM000663.1:g.64095096A>G	GRCh37
NC_000001.9:g.63867684A>G	NCBI36
NG_016966.1:g.41150A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.247A>G MANE Select	ENSP00000360125.3:p.Ile83Val
ENST00000650546.1:c.247A>G	ENSP00000497812.1:p.Ile83Val
ENST00000371083.4:c.301A>G	ENSP00000360124.4:p.Ile101Val
ENST00000371084.7:c.247A>G	ENSP00000360125.3:p.Ile83Val
ENST00000540265.5:c.-345A>G	ENSP00000443449.1:n.-345A>G
NM_001172818.1:c.301A>G	NP_001166289.1:p.Ile101Val
NM_001172819.1:c.-345A>G	NP_001166290.1:n.-345A>G
NM_002633.2:c.247A>G	NP_002624.2:p.Ile83Val
NM_002633.3:c.247A>G MANE Select	NP_002624.2:p.Ile83Val
NM_001172819.2:c.-345A>G	NP_001166290.1:n.-345A>G