Canonical Allele Identifier: CA1252401542

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672999G= , CM000664.2:g.55672999G=	GRCh38
NC_000002.11:g.55900134G= , CM000664.1:g.55900134G=	GRCh37
NC_000002.10:g.55753638G=	NCBI36
NG_033012.1:g.25912C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.760C= MANE Select	ENSP00000400646.2:p.Gln254=
ENST00000260604.8:c.*315C=	ENSP00000260604.4:n.*315C=
ENST00000415374.5:c.760C=	ENSP00000393953.1:p.Gln254=
ENST00000447944.6:c.760C=	ENSP00000400646.2:p.Gln254=
NM_033109.4:c.760C=	NP_149100.2:p.Gln254=
XM_005264629.1:c.520C=	XP_005264686.1:p.Gln174=
XM_011533142.1:c.760C=	XP_011531444.1:p.Gln254=
XM_005264629.2:c.520C=	XP_005264686.1:p.Gln174=
XM_017005172.1:c.520C=	XP_016860661.1:p.Gln174=
XR_001739010.1:n.790C=
NM_033109.5:c.760C= MANE Select	NP_149100.2:p.Gln254=