Canonical Allele Identifier: CA1143575519
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593477C= , CM000663.2:g.63593477C= GRCh38
NC_000001.10:g.64059148C= , CM000663.1:g.64059148C= GRCh37
NC_000001.9:g.63831736C= NCBI36
NG_016966.1:g.5202C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-12C= (PGM1) MANE Select ENSP00000360125.3:n.-12C=
ENST00000650546.1:c.-12C= (PGM1) ENSP00000497812.1:n.-12C=
ENST00000371084.7:c.-12C= (PGM1) ENSP00000360125.3:n.-12C=
ENST00000478138.1:n.197+48G= (ITGB3BP)
NM_002633.2:c.-12C= (PGM1) NP_002624.2:n.-12C=
NM_002633.3:c.-12C= (PGM1) MANE Select NP_002624.2:n.-12C=