Canonical Allele Identifier: CA2262900639

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946682G= , CM000679.2:g.47946682G=	GRCh38
NC_000017.10:g.46024048G= , CM000679.1:g.46024048G=	GRCh37
NC_000017.9:g.43379047G=	NCBI36
NG_008744.1:g.10160G=

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.686G= MANE Select	NP_060599.1:p.Arg229=
ENST00000642017.2:c.686G= MANE Select	ENSP00000493302.2:p.Arg229=
NM_018129.3:c.686G=	NP_060599.1:p.Arg229=
ENST00000225573.4:c.686G=	ENSP00000225573.4:p.Arg229=
ENST00000225573.5:c.557G=	ENSP00000225573.5:p.Arg186=
ENST00000434554.6:c.557G=	ENSP00000399960.2:p.Arg186=
ENST00000434554.7:c.632G=	ENSP00000399960.3:p.Arg211=
ENST00000582171.5:c.*351G=	ENSP00000463994.1:n.*351G=
ENST00000582171.6:c.*351G=	ENSP00000463994.1:n.*351G=
ENST00000583599.6:c.446G=	ENSP00000463919.2:p.Arg149=
ENST00000584061.6:c.617G=	ENSP00000463972.2:p.Arg206=
ENST00000584806.1:n.355G=
ENST00000584806.2:n.355G=
ENST00000585320.5:c.*168G=	ENSP00000462345.1:n.*168G=
ENST00000641285.1:n.466G=
ENST00000641305.1:n.2185G=
ENST00000641323.1:c.*705G=	ENSP00000492965.1:n.*705G=
ENST00000641427.1:n.686G=
ENST00000641511.1:c.418G=
ENST00000641703.1:c.402G=	ENSP00000493219.1:n.402G=
ENST00000641709.1:c.*508G=	ENSP00000493349.1:n.*508G=
ENST00000641856.1:c.*1194G=	ENSP00000493224.1:n.*1194G=
XM_005257500.2:c.446G=	XP_005257557.1:p.Arg149=
XM_005257500.3:c.446G=	XP_005257557.1:p.Arg149=
XM_011524968.1:c.401G=	XP_011523270.1:p.Arg134=
XM_011524968.2:c.401G=	XP_011523270.1:p.Arg134=
XM_017024813.1:c.446G=	XP_016880302.1:p.Arg149=