Canonical Allele Identifier: CA47663201

Gene: PNPT1

Linked Data

• dbSNP Id: rs981886008
• gnomAD v4: 2-55672034-C-A
• MyVariant Identifiers: chr2:g.55899169C>A (hg19) ; chr2:g.55672034C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672034C>A , CM000664.2:g.55672034C>A	GRCh38
NC_000002.11:g.55899169C>A , CM000664.1:g.55899169C>A	GRCh37
NC_000002.10:g.55752673C>A	NCBI36
NG_033012.1:g.26877G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.879G>T MANE Select	ENSP00000400646.2:p.Glu293Asp
ENST00000260604.8:c.*434G>T	ENSP00000260604.4:n.*434G>T
ENST00000415374.5:c.879G>T	ENSP00000393953.1:p.Glu293Asp
ENST00000447944.6:c.879G>T	ENSP00000400646.2:p.Glu293Asp
NM_033109.4:c.879G>T	NP_149100.2:p.Glu293Asp
XM_005264629.1:c.639G>T	XP_005264686.1:p.Glu213Asp
XM_011533142.1:c.879G>T	XP_011531444.1:p.Glu293Asp
XM_005264629.2:c.639G>T	XP_005264686.1:p.Glu213Asp
XM_017005172.1:c.639G>T	XP_016860661.1:p.Glu213Asp
XR_001739010.1:n.909G>T
NM_033109.5:c.879G>T MANE Select	NP_149100.2:p.Glu293Asp