Canonical Allele Identifier: CA889524

Gene: PGM1

Linked Data

• ClinVar Variation Id: 514011
• ClinVar RCV Id: RCV000608592
• dbSNP Id: rs780764308
• ExAC: 1:64095277 T / G
• gnomAD v2: 1-64095277-T-G
• gnomAD v4: 1-63629606-T-G
• MyVariant Identifiers: chr1:g.64095277T>G (hg19) ; chr1:g.63629606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629606T>G , CM000663.2:g.63629606T>G	GRCh38
NC_000001.10:g.64095277T>G , CM000663.1:g.64095277T>G	GRCh37
NC_000001.9:g.63867865T>G	NCBI36
NG_016966.1:g.41331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+19T>G MANE Select	ENSP00000360125.3:n.409+19T>G
ENST00000650546.1:c.409+19T>G	ENSP00000497812.1:n.409+19T>G
ENST00000371083.4:c.463+19T>G	ENSP00000360124.4:n.463+19T>G
ENST00000371084.7:c.409+19T>G	ENSP00000360125.3:n.409+19T>G
ENST00000540265.5:c.-183+19T>G	ENSP00000443449.1:n.-183+19T>G
NM_001172818.1:c.463+19T>G	NP_001166289.1:n.463+19T>G
NM_001172819.1:c.-183+19T>G	NP_001166290.1:n.-183+19T>G
NM_002633.2:c.409+19T>G	NP_002624.2:n.409+19T>G
NM_002633.3:c.409+19T>G MANE Select	NP_002624.2:n.409+19T>G
NM_001172819.2:c.-183+19T>G	NP_001166290.1:n.-183+19T>G