Canonical Allele Identifier: CA1252398370

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667011A= , CM000664.2:g.55667011A=	GRCh38
NC_000002.11:g.55894146A= , CM000664.1:g.55894146A=	GRCh37
NC_000002.10:g.55747650A=	NCBI36
NG_033012.1:g.31900T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1156T= MANE Select	ENSP00000400646.2:p.Phe386=
ENST00000260604.8:c.*711T=	ENSP00000260604.4:n.*711T=
ENST00000415374.5:c.1156T=	ENSP00000393953.1:p.Phe386=
ENST00000415489.1:c.230T=
ENST00000447944.6:c.1156T=	ENSP00000400646.2:p.Phe386=
NM_033109.4:c.1156T=	NP_149100.2:p.Phe386=
XM_005264629.1:c.916T=	XP_005264686.1:p.Phe306=
XM_011533142.1:c.1156T=	XP_011531444.1:p.Phe386=
XM_005264629.2:c.916T=	XP_005264686.1:p.Phe306=
XM_017005172.1:c.916T=	XP_016860661.1:p.Phe306=
XR_001739010.1:n.1186T=
NM_033109.5:c.1156T= MANE Select	NP_149100.2:p.Phe386=