Canonical Allele Identifier: CA1252405692

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680856G= , CM000664.2:g.55680856G=	GRCh38
NC_000002.11:g.55907991G= , CM000664.1:g.55907991G=	GRCh37
NC_000002.10:g.55761495G=	NCBI36
NG_033012.1:g.18055C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.516C= MANE Select	ENSP00000400646.2:p.Gly172=
ENST00000260604.8:c.516C=	ENSP00000260604.4:p.Gly172=
ENST00000415374.5:c.516C=	ENSP00000393953.1:p.Gly172=
ENST00000429805.1:c.*164C=	ENSP00000411994.1:n.*164C=
ENST00000447944.6:c.516C=	ENSP00000400646.2:p.Gly172=
NM_033109.4:c.516C=	NP_149100.2:p.Gly172=
XM_005264629.1:c.276C=	XP_005264686.1:p.Gly92=
XM_011533142.1:c.516C=	XP_011531444.1:p.Gly172=
XM_005264629.2:c.276C=	XP_005264686.1:p.Gly92=
XM_017005172.1:c.276C=	XP_016860661.1:p.Gly92=
XR_001739010.1:n.546C=
NM_033109.5:c.516C= MANE Select	NP_149100.2:p.Gly172=