Canonical Allele Identifier: CA2262900323

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945924C= , CM000679.2:g.47945924C=	GRCh38
NC_000017.10:g.46023290C= , CM000679.1:g.46023290C=	GRCh37
NC_000017.9:g.43378289C=	NCBI36
NG_008744.1:g.9402C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.417+312C=	ENSP00000225573.5:n.417+312C=
ENST00000434554.7:c.427C=	ENSP00000399960.3:p.Arg143=
ENST00000582171.6:c.*146C=	ENSP00000463994.1:n.*146C=
ENST00000583245.6:n.453C=
ENST00000583599.6:c.241C=	ENSP00000463919.2:p.Arg81=
ENST00000584061.6:c.412C=	ENSP00000463972.2:p.Arg138=
ENST00000584806.2:n.215+312C=
ENST00000641285.1:n.261C=
ENST00000641305.1:n.1647C=
ENST00000641323.1:c.*500C=	ENSP00000492965.1:n.*500C=
ENST00000641427.1:n.481C=
ENST00000641511.1:c.279-399C=
ENST00000641703.1:c.197C=	ENSP00000493219.1:n.197C=
ENST00000641709.1:c.*303C=	ENSP00000493349.1:n.*303C=
ENST00000641856.1:c.*989C=	ENSP00000493224.1:n.*989C=
ENST00000642017.2:c.481C= MANE Select	ENSP00000493302.2:p.Arg161=
ENST00000225573.4:c.481C=	ENSP00000225573.4:p.Arg161=
ENST00000434554.6:c.417+312C=	ENSP00000399960.2:n.417+312C=
ENST00000582171.5:c.*146C=	ENSP00000463994.1:n.*146C=
ENST00000583245.5:c.*500C=	ENSP00000463520.1:n.*500C=
ENST00000583599.5:c.241C=	ENSP00000463919.1:p.Arg81=
ENST00000584806.1:n.215+312C=
ENST00000585320.5:c.*29-399C=	ENSP00000462345.1:n.*29-399C=
NM_018129.3:c.481C=	NP_060599.1:p.Arg161=
XM_005257500.2:c.241C=	XP_005257557.1:p.Arg81=
XM_011524968.1:c.196C=	XP_011523270.1:p.Arg66=
XM_005257500.3:c.241C=	XP_005257557.1:p.Arg81=
XM_011524968.2:c.196C=	XP_011523270.1:p.Arg66=
XM_017024813.1:c.241C=	XP_016880302.1:p.Arg81=
NM_018129.4:c.481C= MANE Select	NP_060599.1:p.Arg161=