Canonical Allele Identifier: CA2262900654

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946716T= , CM000679.2:g.47946716T=	GRCh38
NC_000017.10:g.46024082T= , CM000679.1:g.46024082T=	GRCh37
NC_000017.9:g.43379081T=	NCBI36
NG_008744.1:g.10194T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.591T=	ENSP00000225573.5:p.Asp197=
ENST00000434554.7:c.666T=	ENSP00000399960.3:p.Asp222=
ENST00000582171.6:c.*385T=	ENSP00000463994.1:n.*385T=
ENST00000583599.6:c.480T=	ENSP00000463919.2:p.Asp160=
ENST00000584061.6:c.651T=	ENSP00000463972.2:p.Asp217=
ENST00000584806.2:n.389T=
ENST00000641305.1:n.2219T=
ENST00000641323.1:c.*739T=	ENSP00000492965.1:n.*739T=
ENST00000641427.1:n.720T=
ENST00000641511.1:c.452T=
ENST00000641703.1:c.436T=	ENSP00000493219.1:n.436T=
ENST00000641709.1:c.*542T=	ENSP00000493349.1:n.*542T=
ENST00000641856.1:c.*1228T=	ENSP00000493224.1:n.*1228T=
ENST00000642017.2:c.720T= MANE Select	ENSP00000493302.2:p.Asp240=
ENST00000225573.4:c.720T=	ENSP00000225573.4:p.Asp240=
ENST00000434554.6:c.591T=	ENSP00000399960.2:p.Asp197=
ENST00000582171.5:c.*385T=	ENSP00000463994.1:n.*385T=
ENST00000584806.1:n.389T=
ENST00000585320.5:c.*202T=	ENSP00000462345.1:n.*202T=
NM_018129.3:c.720T=	NP_060599.1:p.Asp240=
XM_005257500.2:c.480T=	XP_005257557.1:p.Asp160=
XM_011524968.1:c.435T=	XP_011523270.1:p.Asp145=
XM_005257500.3:c.480T=	XP_005257557.1:p.Asp160=
XM_011524968.2:c.435T=	XP_011523270.1:p.Asp145=
XM_017024813.1:c.480T=	XP_016880302.1:p.Asp160=
NM_018129.4:c.720T= MANE Select	NP_060599.1:p.Asp240=