Canonical Allele Identifier: CA2262900683

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946767G= , CM000679.2:g.47946767G=	GRCh38
NC_000017.10:g.46024133G= , CM000679.1:g.46024133G=	GRCh37
NC_000017.9:g.43379132G=	NCBI36
NG_008744.1:g.10245G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.642G=	ENSP00000225573.5:p.Glu214=
ENST00000434554.7:c.717G=	ENSP00000399960.3:p.Glu239=
ENST00000582171.6:c.*436G=	ENSP00000463994.1:n.*436G=
ENST00000584061.6:c.702G=	ENSP00000463972.2:p.Glu234=
ENST00000584806.2:n.440G=
ENST00000641305.1:n.2270G=
ENST00000641323.1:c.*790G=	ENSP00000492965.1:n.*790G=
ENST00000641427.1:n.771G=
ENST00000641703.1:c.487G=	ENSP00000493219.1:n.487G=
ENST00000641709.1:c.*593G=	ENSP00000493349.1:n.*593G=
ENST00000641856.1:c.*1279G=	ENSP00000493224.1:n.*1279G=
ENST00000642017.2:c.771G= MANE Select	ENSP00000493302.2:p.Glu257=
ENST00000225573.4:c.771G=	ENSP00000225573.4:p.Glu257=
ENST00000434554.6:c.642G=	ENSP00000399960.2:p.Glu214=
ENST00000582171.5:c.*436G=	ENSP00000463994.1:n.*436G=
ENST00000584806.1:n.440G=
NM_018129.3:c.771G=	NP_060599.1:p.Glu257=
XM_005257500.2:c.531G=	XP_005257557.1:p.Glu177=
XM_011524968.1:c.486G=	XP_011523270.1:p.Glu162=
XM_005257500.3:c.531G=	XP_005257557.1:p.Glu177=
XM_011524968.2:c.486G=	XP_011523270.1:p.Glu162=
XM_017024813.1:c.531G=	XP_016880302.1:p.Glu177=
NM_018129.4:c.771G= MANE Select	NP_060599.1:p.Glu257=