Canonical Allele Identifier: CA2262900634

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946672C= , CM000679.2:g.47946672C=	GRCh38
NC_000017.10:g.46024038C= , CM000679.1:g.46024038C=	GRCh37
NC_000017.9:g.43379037C=	NCBI36
NG_008744.1:g.10150C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.547C=	ENSP00000225573.5:p.Leu183=
ENST00000434554.7:c.622C=	ENSP00000399960.3:p.Leu208=
ENST00000582171.6:c.*341C=	ENSP00000463994.1:n.*341C=
ENST00000583599.6:c.436C=	ENSP00000463919.2:p.Leu146=
ENST00000584061.6:c.607C=	ENSP00000463972.2:p.Leu203=
ENST00000584806.2:n.345C=
ENST00000641285.1:n.456C=
ENST00000641305.1:n.2175C=
ENST00000641323.1:c.*695C=	ENSP00000492965.1:n.*695C=
ENST00000641427.1:n.676C=
ENST00000641511.1:c.408C=
ENST00000641703.1:c.392C=	ENSP00000493219.1:n.392C=
ENST00000641709.1:c.*498C=	ENSP00000493349.1:n.*498C=
ENST00000641856.1:c.*1184C=	ENSP00000493224.1:n.*1184C=
ENST00000642017.2:c.676C= MANE Select	ENSP00000493302.2:p.Leu226=
ENST00000225573.4:c.676C=	ENSP00000225573.4:p.Leu226=
ENST00000434554.6:c.547C=	ENSP00000399960.2:p.Leu183=
ENST00000582171.5:c.*341C=	ENSP00000463994.1:n.*341C=
ENST00000584806.1:n.345C=
ENST00000585320.5:c.*158C=	ENSP00000462345.1:n.*158C=
NM_018129.3:c.676C=	NP_060599.1:p.Leu226=
XM_005257500.2:c.436C=	XP_005257557.1:p.Leu146=
XM_011524968.1:c.391C=	XP_011523270.1:p.Leu131=
XM_005257500.3:c.436C=	XP_005257557.1:p.Leu146=
XM_011524968.2:c.391C=	XP_011523270.1:p.Leu131=
XM_017024813.1:c.436C=	XP_016880302.1:p.Leu146=
NM_018129.4:c.676C= MANE Select	NP_060599.1:p.Leu226=