Canonical Allele Identifier: CA500453801

Gene: PNPO

Linked Data

• COSMIC: COSM1630238
• MyVariant Identifiers: chr17:g.46023993C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946627C>T , CM000679.2:g.47946627C>T	GRCh38
NC_000017.10:g.46023993C>T , CM000679.1:g.46023993C>T	GRCh37
NC_000017.9:g.43378992C>T	NCBI36
NG_008744.1:g.10105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.502C>T	ENSP00000225573.5:p.Leu168=
ENST00000434554.7:c.577C>T	ENSP00000399960.3:p.Leu193=
ENST00000582171.6:c.*296C>T	ENSP00000463994.1:n.*296C>T
ENST00000583599.6:c.391C>T	ENSP00000463919.2:p.Leu131=
ENST00000584061.6:c.562C>T	ENSP00000463972.2:p.Leu188=
ENST00000584806.2:n.300C>T
ENST00000641285.1:n.411C>T
ENST00000641305.1:n.2130C>T
ENST00000641323.1:c.*650C>T	ENSP00000492965.1:n.*650C>T
ENST00000641427.1:n.631C>T
ENST00000641511.1:c.363C>T
ENST00000641703.1:c.347C>T	ENSP00000493219.1:n.347C>T
ENST00000641709.1:c.*453C>T	ENSP00000493349.1:n.*453C>T
ENST00000641856.1:c.*1139C>T	ENSP00000493224.1:n.*1139C>T
ENST00000642017.2:c.631C>T MANE Select	ENSP00000493302.2:p.Leu211=
ENST00000225573.4:c.631C>T	ENSP00000225573.4:p.Leu211=
ENST00000434554.6:c.502C>T	ENSP00000399960.2:p.Leu168=
ENST00000582171.5:c.*296C>T	ENSP00000463994.1:n.*296C>T
ENST00000584806.1:n.300C>T
ENST00000585320.5:c.*113C>T	ENSP00000462345.1:n.*113C>T
NM_018129.3:c.631C>T	NP_060599.1:p.Leu211=
XM_005257500.2:c.391C>T	XP_005257557.1:p.Leu131=
XM_011524968.1:c.346C>T	XP_011523270.1:p.Leu116=
XM_005257500.3:c.391C>T	XP_005257557.1:p.Leu131=
XM_011524968.2:c.346C>T	XP_011523270.1:p.Leu116=
XM_017024813.1:c.391C>T	XP_016880302.1:p.Leu131=
NM_018129.4:c.631C>T MANE Select	NP_060599.1:p.Leu211=