Canonical Allele Identifier: CA500453809

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46023995G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946629G>T , CM000679.2:g.47946629G>T	GRCh38
NC_000017.10:g.46023995G>T , CM000679.1:g.46023995G>T	GRCh37
NC_000017.9:g.43378994G>T	NCBI36
NG_008744.1:g.10107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.504G>T	ENSP00000225573.5:p.Leu168=
ENST00000434554.7:c.579G>T	ENSP00000399960.3:p.Leu193=
ENST00000582171.6:c.*298G>T	ENSP00000463994.1:n.*298G>T
ENST00000583599.6:c.393G>T	ENSP00000463919.2:p.Leu131=
ENST00000584061.6:c.564G>T	ENSP00000463972.2:p.Leu188=
ENST00000584806.2:n.302G>T
ENST00000641285.1:n.413G>T
ENST00000641305.1:n.2132G>T
ENST00000641323.1:c.*652G>T	ENSP00000492965.1:n.*652G>T
ENST00000641427.1:n.633G>T
ENST00000641511.1:c.365G>T
ENST00000641703.1:c.349G>T	ENSP00000493219.1:n.349G>T
ENST00000641709.1:c.*455G>T	ENSP00000493349.1:n.*455G>T
ENST00000641856.1:c.*1141G>T	ENSP00000493224.1:n.*1141G>T
ENST00000642017.2:c.633G>T MANE Select	ENSP00000493302.2:p.Leu211=
ENST00000225573.4:c.633G>T	ENSP00000225573.4:p.Leu211=
ENST00000434554.6:c.504G>T	ENSP00000399960.2:p.Leu168=
ENST00000582171.5:c.*298G>T	ENSP00000463994.1:n.*298G>T
ENST00000584806.1:n.302G>T
ENST00000585320.5:c.*115G>T	ENSP00000462345.1:n.*115G>T
NM_018129.3:c.633G>T	NP_060599.1:p.Leu211=
XM_005257500.2:c.393G>T	XP_005257557.1:p.Leu131=
XM_011524968.1:c.348G>T	XP_011523270.1:p.Leu116=
XM_005257500.3:c.393G>T	XP_005257557.1:p.Leu131=
XM_011524968.2:c.348G>T	XP_011523270.1:p.Leu116=
XM_017024813.1:c.393G>T	XP_016880302.1:p.Leu131=
NM_018129.4:c.633G>T MANE Select	NP_060599.1:p.Leu211=