Canonical Allele Identifier: CA2646032712

Gene: PGM1 ITGB3BP

Linked Data

• gnomAD v4: 1-63593432-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593432G>C , CM000663.2:g.63593432G>C	GRCh38
NC_000001.10:g.64059103G>C , CM000663.1:g.64059103G>C	GRCh37
NC_000001.9:g.63831691G>C	NCBI36
NG_016966.1:g.5157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.-57G>C (PGM1) MANE Select	ENSP00000360125.3:n.-57G>C
ENST00000650546.1:c.-57G>C (PGM1)	ENSP00000497812.1:n.-57G>C
ENST00000371084.7:c.-57G>C (PGM1)	ENSP00000360125.3:n.-57G>C
ENST00000478138.1:n.197+93C>G (ITGB3BP)
NM_002633.2:c.-57G>C (PGM1)	NP_002624.2:n.-57G>C
NM_002633.3:c.-57G>C (PGM1) MANE Select	NP_002624.2:n.-57G>C