Canonical Allele Identifier: CA346926136

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647421C>T , CM000664.2:g.55647421C>T	GRCh38
NC_000002.11:g.55874556C>T , CM000664.1:g.55874556C>T	GRCh37
NC_000002.10:g.55728060C>T	NCBI36
NG_033012.1:g.51490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1528G>A MANE Select	ENSP00000400646.2:p.Ala510Thr
ENST00000260604.8:c.*1083G>A	ENSP00000260604.4:n.*1083G>A
ENST00000415374.5:c.1528G>A	ENSP00000393953.1:p.Ala510Thr
ENST00000415489.1:c.535G>A
ENST00000447944.6:c.1528G>A	ENSP00000400646.2:p.Ala510Thr
NM_033109.4:c.1528G>A	NP_149100.2:p.Ala510Thr
XM_005264629.1:c.1288G>A	XP_005264686.1:p.Ala430Thr
XM_011533142.1:c.*60G>A	XP_011531444.1:n.*60G>A
XM_005264629.2:c.1288G>A	XP_005264686.1:p.Ala430Thr
XM_017005172.1:c.1288G>A	XP_016860661.1:p.Ala430Thr
XR_001739010.1:n.1605G>A
NM_033109.5:c.1528G>A MANE Select	NP_149100.2:p.Ala510Thr