Canonical Allele Identifier: CA1667741

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55636376C>T , CM000664.2:g.55636376C>T	GRCh38
NC_000002.11:g.55863511C>T , CM000664.1:g.55863511C>T	GRCh37
NC_000002.10:g.55717015C>T	NCBI36
NG_033012.1:g.62535G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.2213G>A MANE Select	NP_149100.2:p.Arg738His
ENST00000447944.7:c.2213G>A MANE Select	ENSP00000400646.2:p.Arg738His
NM_033109.4:c.2213G>A	NP_149100.2:p.Arg738His
ENST00000260604.8:c.*1755G>A	ENSP00000260604.4:n.*1755G>A
ENST00000415374.5:c.2213G>A	ENSP00000393953.1:p.Arg738His
ENST00000447944.6:c.2213G>A	ENSP00000400646.2:p.Arg738His
ENST00000481066.1:n.1275G>A
XM_005264629.1:c.1973G>A	XP_005264686.1:p.Arg658His
XM_005264629.2:c.1973G>A	XP_005264686.1:p.Arg658His
XM_017005172.1:c.1973G>A	XP_016860661.1:p.Arg658His