Canonical Allele Identifier: CA23831824

Gene: PGM1

Linked Data

• dbSNP Id: rs117224380
• gnomAD v2: 1-64094875-C-T
• gnomAD v3: 1-63629204-C-T
• gnomAD v4: 1-63629204-C-T
• MyVariant Identifiers: chr1:g.64094875C>T (hg19) ; chr1:g.63629204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629204C>T , CM000663.2:g.63629204C>T	GRCh38
NC_000001.10:g.64094875C>T , CM000663.1:g.64094875C>T	GRCh37
NC_000001.9:g.63867463C>T	NCBI36
NG_016966.1:g.40929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-221C>T MANE Select	ENSP00000360125.3:n.247-221C>T
ENST00000650546.1:c.247-221C>T	ENSP00000497812.1:n.247-221C>T
ENST00000371083.4:c.301-221C>T	ENSP00000360124.4:n.301-221C>T
ENST00000371084.7:c.247-221C>T	ENSP00000360125.3:n.247-221C>T
ENST00000540265.5:c.-345-221C>T	ENSP00000443449.1:n.-345-221C>T
NM_001172818.1:c.301-221C>T	NP_001166289.1:n.301-221C>T
NM_001172819.1:c.-345-221C>T	NP_001166290.1:n.-345-221C>T
NM_002633.2:c.247-221C>T	NP_002624.2:n.247-221C>T
NM_002633.3:c.247-221C>T MANE Select	NP_002624.2:n.247-221C>T
NM_001172819.2:c.-345-221C>T	NP_001166290.1:n.-345-221C>T