Canonical Allele Identifier: CA400057989

Gene: PNPO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47945593G>A , CM000679.2:g.47945593G>A	GRCh38
NC_000017.10:g.46022959G>A , CM000679.1:g.46022959G>A	GRCh37
NC_000017.9:g.43377958G>A	NCBI36
NG_008744.1:g.9071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.398G>A	ENSP00000225573.5:p.Trp133Ter
ENST00000434554.7:c.364-268G>A	ENSP00000399960.3:n.364-268G>A
ENST00000582171.6:c.*63G>A	ENSP00000463994.1:n.*63G>A
ENST00000583245.6:n.366G>A
ENST00000583599.6:c.158G>A	ENSP00000463919.2:p.Trp53Ter
ENST00000584061.6:c.334-5G>A	ENSP00000463972.2:n.334-5G>A
ENST00000584806.2:n.196G>A
ENST00000641285.1:n.178G>A
ENST00000641305.1:n.1316G>A
ENST00000641323.1:c.*417G>A	ENSP00000492965.1:n.*417G>A
ENST00000641427.1:n.398G>A
ENST00000641511.1:c.279-730G>A
ENST00000641703.1:c.134-268G>A	ENSP00000493219.1:n.134-268G>A
ENST00000641709.1:c.*220G>A	ENSP00000493349.1:n.*220G>A
ENST00000641856.1:c.*906G>A	ENSP00000493224.1:n.*906G>A
ENST00000642017.2:c.398G>A MANE Select	ENSP00000493302.2:p.Trp133Ter
ENST00000225573.4:c.398G>A	ENSP00000225573.4:p.Trp133Ter
ENST00000434554.6:c.398G>A	ENSP00000399960.2:p.Trp133Ter
ENST00000582171.5:c.*63G>A	ENSP00000463994.1:n.*63G>A
ENST00000583245.5:c.*417G>A	ENSP00000463520.1:n.*417G>A
ENST00000583599.5:c.158G>A	ENSP00000463919.1:p.Trp53Ter
ENST00000584061.5:c.*220G>A	ENSP00000463972.1:n.*220G>A
ENST00000584806.1:n.196G>A
ENST00000585320.5:c.*29-730G>A	ENSP00000462345.1:n.*29-730G>A
NM_018129.3:c.398G>A	NP_060599.1:p.Trp133Ter
XM_005257500.2:c.158G>A	XP_005257557.1:p.Trp53Ter
XM_011524968.1:c.113G>A	XP_011523270.1:p.Trp38Ter
XM_005257500.3:c.158G>A	XP_005257557.1:p.Trp53Ter
XM_011524968.2:c.113G>A	XP_011523270.1:p.Trp38Ter
XM_017024813.1:c.158G>A	XP_016880302.1:p.Trp53Ter
NM_018129.4:c.398G>A MANE Select	NP_060599.1:p.Trp133Ter