Canonical Allele Identifier: CA346932364

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55672035-T-C
• MyVariant Identifiers: chr2:g.55899170T>C (hg19) ; chr2:g.55672035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672035T>C , CM000664.2:g.55672035T>C	GRCh38
NC_000002.11:g.55899170T>C , CM000664.1:g.55899170T>C	GRCh37
NC_000002.10:g.55752674T>C	NCBI36
NG_033012.1:g.26876A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.878A>G MANE Select	ENSP00000400646.2:p.Glu293Gly
ENST00000260604.8:c.*433A>G	ENSP00000260604.4:n.*433A>G
ENST00000415374.5:c.878A>G	ENSP00000393953.1:p.Glu293Gly
ENST00000447944.6:c.878A>G	ENSP00000400646.2:p.Glu293Gly
NM_033109.4:c.878A>G	NP_149100.2:p.Glu293Gly
XM_005264629.1:c.638A>G	XP_005264686.1:p.Glu213Gly
XM_011533142.1:c.878A>G	XP_011531444.1:p.Glu293Gly
XM_005264629.2:c.638A>G	XP_005264686.1:p.Glu213Gly
XM_017005172.1:c.638A>G	XP_016860661.1:p.Glu213Gly
XR_001739010.1:n.908A>G
NM_033109.5:c.878A>G MANE Select	NP_149100.2:p.Glu293Gly