Canonical Allele Identifier: CA500454012

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024061G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946695G>T , CM000679.2:g.47946695G>T	GRCh38
NC_000017.10:g.46024061G>T , CM000679.1:g.46024061G>T	GRCh37
NC_000017.9:g.43379060G>T	NCBI36
NG_008744.1:g.10173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.570G>T	ENSP00000225573.5:p.Arg190=
ENST00000434554.7:c.645G>T	ENSP00000399960.3:p.Arg215=
ENST00000582171.6:c.*364G>T	ENSP00000463994.1:n.*364G>T
ENST00000583599.6:c.459G>T	ENSP00000463919.2:p.Arg153=
ENST00000584061.6:c.630G>T	ENSP00000463972.2:p.Arg210=
ENST00000584806.2:n.368G>T
ENST00000641285.1:n.479G>T
ENST00000641305.1:n.2198G>T
ENST00000641323.1:c.*718G>T	ENSP00000492965.1:n.*718G>T
ENST00000641427.1:n.699G>T
ENST00000641511.1:c.431G>T
ENST00000641703.1:c.415G>T	ENSP00000493219.1:n.415G>T
ENST00000641709.1:c.*521G>T	ENSP00000493349.1:n.*521G>T
ENST00000641856.1:c.*1207G>T	ENSP00000493224.1:n.*1207G>T
ENST00000642017.2:c.699G>T MANE Select	ENSP00000493302.2:p.Arg233=
ENST00000225573.4:c.699G>T	ENSP00000225573.4:p.Arg233=
ENST00000434554.6:c.570G>T	ENSP00000399960.2:p.Arg190=
ENST00000582171.5:c.*364G>T	ENSP00000463994.1:n.*364G>T
ENST00000584806.1:n.368G>T
ENST00000585320.5:c.*181G>T	ENSP00000462345.1:n.*181G>T
NM_018129.3:c.699G>T	NP_060599.1:p.Arg233=
XM_005257500.2:c.459G>T	XP_005257557.1:p.Arg153=
XM_011524968.1:c.414G>T	XP_011523270.1:p.Arg138=
XM_005257500.3:c.459G>T	XP_005257557.1:p.Arg153=
XM_011524968.2:c.414G>T	XP_011523270.1:p.Arg138=
XM_017024813.1:c.459G>T	XP_016880302.1:p.Arg153=
NM_018129.4:c.699G>T MANE Select	NP_060599.1:p.Arg233=