Canonical Allele Identifier: CA889324

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs765034541
• ExAC: 1:64059127 C / G
• gnomAD v2: 1-64059127-C-G
• gnomAD v3: 1-63593456-C-G
• gnomAD v4: 1-63593456-C-G
• MyVariant Identifiers: chr1:g.64059127C>G (hg19) ; chr1:g.63593456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593456C>G , CM000663.2:g.63593456C>G	GRCh38
NC_000001.10:g.64059127C>G , CM000663.1:g.64059127C>G	GRCh37
NC_000001.9:g.63831715C>G	NCBI36
NG_016966.1:g.5181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.-33C>G (PGM1) MANE Select	ENSP00000360125.3:n.-33C>G
ENST00000650546.1:c.-33C>G (PGM1)	ENSP00000497812.1:n.-33C>G
ENST00000371084.7:c.-33C>G (PGM1)	ENSP00000360125.3:n.-33C>G
ENST00000478138.1:n.197+69G>C (ITGB3BP)
NM_002633.2:c.-33C>G (PGM1)	NP_002624.2:n.-33C>G
NM_002633.3:c.-33C>G (PGM1) MANE Select	NP_002624.2:n.-33C>G