Canonical Allele Identifier: CA400062323

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946652G>A , CM000679.2:g.47946652G>A	GRCh38
NC_000017.10:g.46024018G>A , CM000679.1:g.46024018G>A	GRCh37
NC_000017.9:g.43379017G>A	NCBI36
NG_008744.1:g.10130G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.656G>A MANE Select	NP_060599.1:p.Trp219Ter
ENST00000642017.2:c.656G>A MANE Select	ENSP00000493302.2:p.Trp219Ter
NM_018129.3:c.656G>A	NP_060599.1:p.Trp219Ter
ENST00000225573.4:c.656G>A	ENSP00000225573.4:p.Trp219Ter
ENST00000225573.5:c.527G>A	ENSP00000225573.5:p.Trp176Ter
ENST00000434554.6:c.527G>A	ENSP00000399960.2:p.Trp176Ter
ENST00000434554.7:c.602G>A	ENSP00000399960.3:p.Trp201Ter
ENST00000582171.5:c.*321G>A	ENSP00000463994.1:n.*321G>A
ENST00000582171.6:c.*321G>A	ENSP00000463994.1:n.*321G>A
ENST00000583599.6:c.416G>A	ENSP00000463919.2:p.Trp139Ter
ENST00000584061.6:c.587G>A	ENSP00000463972.2:p.Trp196Ter
ENST00000584806.1:n.325G>A
ENST00000584806.2:n.325G>A
ENST00000585320.5:c.*138G>A	ENSP00000462345.1:n.*138G>A
ENST00000641285.1:n.436G>A
ENST00000641305.1:n.2155G>A
ENST00000641323.1:c.*675G>A	ENSP00000492965.1:n.*675G>A
ENST00000641427.1:n.656G>A
ENST00000641511.1:c.388G>A
ENST00000641703.1:c.372G>A	ENSP00000493219.1:n.372G>A
ENST00000641709.1:c.*478G>A	ENSP00000493349.1:n.*478G>A
ENST00000641856.1:c.*1164G>A	ENSP00000493224.1:n.*1164G>A
XM_005257500.2:c.416G>A	XP_005257557.1:p.Trp139Ter
XM_005257500.3:c.416G>A	XP_005257557.1:p.Trp139Ter
XM_011524968.1:c.371G>A	XP_011523270.1:p.Trp124Ter
XM_011524968.2:c.371G>A	XP_011523270.1:p.Trp124Ter
XM_017024813.1:c.416G>A	XP_016880302.1:p.Trp139Ter