Canonical Allele Identifier: CA1252405698

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680879G= , CM000664.2:g.55680879G=	GRCh38
NC_000002.11:g.55908014G= , CM000664.1:g.55908014G=	GRCh37
NC_000002.10:g.55761518G=	NCBI36
NG_033012.1:g.18032C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.493C= MANE Select	ENSP00000400646.2:p.Pro165=
ENST00000260604.8:c.493C=	ENSP00000260604.4:p.Pro165=
ENST00000415374.5:c.493C=	ENSP00000393953.1:p.Pro165=
ENST00000429805.1:c.*141C=	ENSP00000411994.1:n.*141C=
ENST00000447944.6:c.493C=	ENSP00000400646.2:p.Pro165=
NM_033109.4:c.493C=	NP_149100.2:p.Pro165=
XM_005264629.1:c.253C=	XP_005264686.1:p.Pro85=
XM_011533142.1:c.493C=	XP_011531444.1:p.Pro165=
XM_005264629.2:c.253C=	XP_005264686.1:p.Pro85=
XM_017005172.1:c.253C=	XP_016860661.1:p.Pro85=
XR_001739010.1:n.523C=
NM_033109.5:c.493C= MANE Select	NP_149100.2:p.Pro165=