Canonical Allele Identifier: CA1252398312

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666894A= , CM000664.2:g.55666894A=	GRCh38
NC_000002.11:g.55894029A= , CM000664.1:g.55894029A=	GRCh37
NC_000002.10:g.55747533A=	NCBI36
NG_033012.1:g.32017T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+97T= MANE Select	ENSP00000400646.2:n.1176+97T=
ENST00000260604.8:c.*731+97T=	ENSP00000260604.4:n.*731+97T=
ENST00000415374.5:c.1176+97T=	ENSP00000393953.1:n.1176+97T=
ENST00000415489.1:c.250+97T=
ENST00000447944.6:c.1176+97T=	ENSP00000400646.2:n.1176+97T=
NM_033109.4:c.1176+97T=	NP_149100.2:n.1176+97T=
XM_005264629.1:c.936+97T=	XP_005264686.1:n.936+97T=
XM_011533142.1:c.1176+97T=	XP_011531444.1:n.1176+97T=
XM_005264629.2:c.936+97T=	XP_005264686.1:n.936+97T=
XM_017005172.1:c.936+97T=	XP_016860661.1:n.936+97T=
XR_001739010.1:n.1206+97T=
NM_033109.5:c.1176+97T= MANE Select	NP_149100.2:n.1176+97T=