Canonical Allele Identifier: CA1252401174

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672259G= , CM000664.2:g.55672259G=	GRCh38
NC_000002.11:g.55899394G= , CM000664.1:g.55899394G=	GRCh37
NC_000002.10:g.55752898G=	NCBI36
NG_033012.1:g.26652C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-213C= MANE Select	ENSP00000400646.2:n.867-213C=
ENST00000260604.8:c.*422-213C=	ENSP00000260604.4:n.*422-213C=
ENST00000415374.5:c.867-213C=	ENSP00000393953.1:n.867-213C=
ENST00000447944.6:c.867-213C=	ENSP00000400646.2:n.867-213C=
NM_033109.4:c.867-213C=	NP_149100.2:n.867-213C=
XM_005264629.1:c.627-213C=	XP_005264686.1:n.627-213C=
XM_011533142.1:c.867-213C=	XP_011531444.1:n.867-213C=
XM_005264629.2:c.627-213C=	XP_005264686.1:n.627-213C=
XM_017005172.1:c.627-213C=	XP_016860661.1:n.627-213C=
XR_001739010.1:n.897-213C=
NM_033109.5:c.867-213C= MANE Select	NP_149100.2:n.867-213C=