Canonical Allele Identifier: CA1252401567

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55673071C= , CM000664.2:g.55673071C=	GRCh38
NC_000002.11:g.55900206C= , CM000664.1:g.55900206C=	GRCh37
NC_000002.10:g.55753710C=	NCBI36
NG_033012.1:g.25840G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.688G= MANE Select	ENSP00000400646.2:p.Glu230=
ENST00000260604.8:c.*243G=	ENSP00000260604.4:n.*243G=
ENST00000415374.5:c.688G=	ENSP00000393953.1:p.Glu230=
ENST00000447944.6:c.688G=	ENSP00000400646.2:p.Glu230=
NM_033109.4:c.688G=	NP_149100.2:p.Glu230=
XM_005264629.1:c.448G=	XP_005264686.1:p.Glu150=
XM_011533142.1:c.688G=	XP_011531444.1:p.Glu230=
XM_005264629.2:c.448G=	XP_005264686.1:p.Glu150=
XM_017005172.1:c.448G=	XP_016860661.1:p.Glu150=
XR_001739010.1:n.718G=
NM_033109.5:c.688G= MANE Select	NP_149100.2:p.Glu230=