Canonical Allele Identifier: CA2262900644

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946696C= , CM000679.2:g.47946696C=	GRCh38
NC_000017.10:g.46024062C= , CM000679.1:g.46024062C=	GRCh37
NC_000017.9:g.43379061C=	NCBI36
NG_008744.1:g.10174C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.571C=	ENSP00000225573.5:p.Arg191=
ENST00000434554.7:c.646C=	ENSP00000399960.3:p.Arg216=
ENST00000582171.6:c.*365C=	ENSP00000463994.1:n.*365C=
ENST00000583599.6:c.460C=	ENSP00000463919.2:p.Arg154=
ENST00000584061.6:c.631C=	ENSP00000463972.2:p.Arg211=
ENST00000584806.2:n.369C=
ENST00000641285.1:n.480C=
ENST00000641305.1:n.2199C=
ENST00000641323.1:c.*719C=	ENSP00000492965.1:n.*719C=
ENST00000641427.1:n.700C=
ENST00000641511.1:c.432C=
ENST00000641703.1:c.416C=	ENSP00000493219.1:n.416C=
ENST00000641709.1:c.*522C=	ENSP00000493349.1:n.*522C=
ENST00000641856.1:c.*1208C=	ENSP00000493224.1:n.*1208C=
ENST00000642017.2:c.700C= MANE Select	ENSP00000493302.2:p.Arg234=
ENST00000225573.4:c.700C=	ENSP00000225573.4:p.Arg234=
ENST00000434554.6:c.571C=	ENSP00000399960.2:p.Arg191=
ENST00000582171.5:c.*365C=	ENSP00000463994.1:n.*365C=
ENST00000584806.1:n.369C=
ENST00000585320.5:c.*182C=	ENSP00000462345.1:n.*182C=
NM_018129.3:c.700C=	NP_060599.1:p.Arg234=
XM_005257500.2:c.460C=	XP_005257557.1:p.Arg154=
XM_011524968.1:c.415C=	XP_011523270.1:p.Arg139=
XM_005257500.3:c.460C=	XP_005257557.1:p.Arg154=
XM_011524968.2:c.415C=	XP_011523270.1:p.Arg139=
XM_017024813.1:c.460C=	XP_016880302.1:p.Arg154=
NM_018129.4:c.700C= MANE Select	NP_060599.1:p.Arg234=