Canonical Allele Identifier: CA2262900668

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946742G= , CM000679.2:g.47946742G=	GRCh38
NC_000017.10:g.46024108G= , CM000679.1:g.46024108G=	GRCh37
NC_000017.9:g.43379107G=	NCBI36
NG_008744.1:g.10220G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.617G=	ENSP00000225573.5:p.Arg206=
ENST00000434554.7:c.692G=	ENSP00000399960.3:p.Arg231=
ENST00000582171.6:c.*411G=	ENSP00000463994.1:n.*411G=
ENST00000584061.6:c.677G=	ENSP00000463972.2:p.Arg226=
ENST00000584806.2:n.415G=
ENST00000641305.1:n.2245G=
ENST00000641323.1:c.*765G=	ENSP00000492965.1:n.*765G=
ENST00000641427.1:n.746G=
ENST00000641703.1:c.462G=	ENSP00000493219.1:n.462G=
ENST00000641709.1:c.*568G=	ENSP00000493349.1:n.*568G=
ENST00000641856.1:c.*1254G=	ENSP00000493224.1:n.*1254G=
ENST00000642017.2:c.746G= MANE Select	ENSP00000493302.2:p.Arg249=
ENST00000225573.4:c.746G=	ENSP00000225573.4:p.Arg249=
ENST00000434554.6:c.617G=	ENSP00000399960.2:p.Arg206=
ENST00000582171.5:c.*411G=	ENSP00000463994.1:n.*411G=
ENST00000584806.1:n.415G=
ENST00000585320.5:c.*228G=	ENSP00000462345.1:n.*228G=
NM_018129.3:c.746G=	NP_060599.1:p.Arg249=
XM_005257500.2:c.506G=	XP_005257557.1:p.Arg169=
XM_011524968.1:c.461G=	XP_011523270.1:p.Arg154=
XM_005257500.3:c.506G=	XP_005257557.1:p.Arg169=
XM_011524968.2:c.461G=	XP_011523270.1:p.Arg154=
XM_017024813.1:c.506G=	XP_016880302.1:p.Arg169=
NM_018129.4:c.746G= MANE Select	NP_060599.1:p.Arg249=