Canonical Allele Identifier: CA889323

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs756324880
• ExAC: 1:64059125 T / A
• gnomAD v2: 1-64059125-T-A
• gnomAD v4: 1-63593454-T-A
• MyVariant Identifiers: chr1:g.64059125T>A (hg19) ; chr1:g.64059125_64059137delinsACCGCCGCTCTGA (hg19) ; chr1:g.63593454T>A (hg38) ; chr1:g.63593454_63593466delinsACCGCCGCTCTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593454T>A , CM000663.2:g.63593454T>A	GRCh38
NC_000001.10:g.64059125T>A , CM000663.1:g.64059125T>A	GRCh37
NC_000001.9:g.63831713T>A	NCBI36
NG_016966.1:g.5179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.-35T>A (PGM1) MANE Select	ENSP00000360125.3:n.-35T>A
ENST00000650546.1:c.-35T>A (PGM1)	ENSP00000497812.1:n.-35T>A
ENST00000371084.7:c.-35T>A (PGM1)	ENSP00000360125.3:n.-35T>A
ENST00000478138.1:n.197+71A>T (ITGB3BP)
NM_002633.2:c.-35T>A (PGM1)	NP_002624.2:n.-35T>A
NM_002633.3:c.-35T>A (PGM1) MANE Select	NP_002624.2:n.-35T>A