Canonical Allele Identifier: CA340639022

Gene: PGM1 ITGB3BP

Linked Data

• MyVariant Identifiers: chr1:g.64059226C>T (hg19) ; chr1:g.63593555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593555C>T , CM000663.2:g.63593555C>T	GRCh38
NC_000001.10:g.64059226C>T , CM000663.1:g.64059226C>T	GRCh37
NC_000001.9:g.63831814C>T	NCBI36
NG_016966.1:g.5280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.67C>T (PGM1) MANE Select	ENSP00000360125.3:p.Arg23Trp
ENST00000650546.1:c.67C>T (PGM1)	ENSP00000497812.1:p.Arg23Trp
ENST00000371084.7:c.67C>T (PGM1)	ENSP00000360125.3:p.Arg23Trp
ENST00000478138.1:n.167G>A (ITGB3BP)
NM_002633.2:c.67C>T (PGM1)	NP_002624.2:p.Arg23Trp
NM_002633.3:c.67C>T (PGM1) MANE Select	NP_002624.2:p.Arg23Trp