Canonical Allele Identifier: CA2262900775

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47947010C= , CM000679.2:g.47947010C=	GRCh38
NC_000017.10:g.46024376C= , CM000679.1:g.46024376C=	GRCh37
NC_000017.9:g.43379375C=	NCBI36
NG_008744.1:g.10488C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*228C=	ENSP00000225573.5:n.*228C=
ENST00000434554.7:c.*228C=	ENSP00000399960.3:n.*228C=
ENST00000582171.6:c.*679C=	ENSP00000463994.1:n.*679C=
ENST00000584806.2:n.683C=
ENST00000641305.1:n.2513C=
ENST00000641323.1:c.*1033C=	ENSP00000492965.1:n.*1033C=
ENST00000641427.1:n.1014C=
ENST00000641703.1:c.730C=	ENSP00000493219.1:n.730C=
ENST00000641709.1:c.*836C=	ENSP00000493349.1:n.*836C=
ENST00000641856.1:c.*1522C=	ENSP00000493224.1:n.*1522C=
ENST00000642017.2:c.*228C= MANE Select	ENSP00000493302.2:n.*228C=
ENST00000225573.4:c.*228C=	ENSP00000225573.4:n.*228C=
ENST00000434554.6:c.*228C=	ENSP00000399960.2:n.*228C=
ENST00000582171.5:c.*679C=	ENSP00000463994.1:n.*679C=
NM_018129.3:c.*228C=	NP_060599.1:n.*228C=
XM_005257500.2:c.*228C=	XP_005257557.1:n.*228C=
XM_011524968.1:c.*228C=	XP_011523270.1:n.*228C=
XM_005257500.3:c.*228C=	XP_005257557.1:n.*228C=
XM_011524968.2:c.*228C=	XP_011523270.1:n.*228C=
XM_017024813.1:c.*228C=	XP_016880302.1:n.*228C=
NM_018129.4:c.*228C= MANE Select	NP_060599.1:n.*228C=