Canonical Allele Identifier: CA156392

Gene: PGM1 ITGB3BP

Linked Data

• ClinVar Variation Id: 133288
• ClinVar RCV Id: RCV000119801 ; RCV000733693
• dbSNP Id: rs587777403
• gnomAD v2: 1-64059343-G-C
• gnomAD v4: 1-63593672-G-C
• MyVariant Identifiers: chr1:g.64059343G>C (hg19) ; chr1:g.63593672G>C (hg38)
• PubMed: PMID:24499211

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593672G>C , CM000663.2:g.63593672G>C	GRCh38
NC_000001.10:g.64059343G>C , CM000663.1:g.64059343G>C	GRCh37
NC_000001.9:g.63831931G>C	NCBI36
NG_016966.1:g.5397G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.184G>C (PGM1) MANE Select	ENSP00000360125.3:p.Asp62His
ENST00000650546.1:c.184G>C (PGM1)	ENSP00000497812.1:p.Asp62His
ENST00000371084.7:c.184G>C (PGM1)	ENSP00000360125.3:p.Asp62His
ENST00000478138.1:n.50C>G (ITGB3BP)
NM_002633.2:c.184G>C (PGM1)	NP_002624.2:p.Asp62His
NM_002633.3:c.184G>C (PGM1) MANE Select	NP_002624.2:p.Asp62His