Canonical Allele Identifier: CA1252408003

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55684952G= , CM000664.2:g.55684952G=	GRCh38
NC_000002.11:g.55912087G= , CM000664.1:g.55912087G=	GRCh37
NC_000002.10:g.55765591G=	NCBI36
NG_033012.1:g.13959C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.394C= MANE Select	ENSP00000400646.2:p.Arg132=
ENST00000260604.8:c.394C=	ENSP00000260604.4:p.Arg132=
ENST00000415374.5:c.394C=	ENSP00000393953.1:p.Arg132=
ENST00000429805.1:c.*42C=	ENSP00000411994.1:n.*42C=
ENST00000447944.6:c.394C=	ENSP00000400646.2:p.Arg132=
NM_033109.4:c.394C=	NP_149100.2:p.Arg132=
XM_005264629.1:c.154C=	XP_005264686.1:p.Arg52=
XM_011533142.1:c.394C=	XP_011531444.1:p.Arg132=
XM_005264629.2:c.154C=	XP_005264686.1:p.Arg52=
XM_017005172.1:c.154C=	XP_016860661.1:p.Arg52=
XR_001739010.1:n.424C=
NM_033109.5:c.394C= MANE Select	NP_149100.2:p.Arg132=