Canonical Allele Identifier: CA500453978

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024049G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946683G>T , CM000679.2:g.47946683G>T	GRCh38
NC_000017.10:g.46024049G>T , CM000679.1:g.46024049G>T	GRCh37
NC_000017.9:g.43379048G>T	NCBI36
NG_008744.1:g.10161G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.558G>T	ENSP00000225573.5:p.Arg186=
ENST00000434554.7:c.633G>T	ENSP00000399960.3:p.Arg211=
ENST00000582171.6:c.*352G>T	ENSP00000463994.1:n.*352G>T
ENST00000583599.6:c.447G>T	ENSP00000463919.2:p.Arg149=
ENST00000584061.6:c.618G>T	ENSP00000463972.2:p.Arg206=
ENST00000584806.2:n.356G>T
ENST00000641285.1:n.467G>T
ENST00000641305.1:n.2186G>T
ENST00000641323.1:c.*706G>T	ENSP00000492965.1:n.*706G>T
ENST00000641427.1:n.687G>T
ENST00000641511.1:c.419G>T
ENST00000641703.1:c.403G>T	ENSP00000493219.1:n.403G>T
ENST00000641709.1:c.*509G>T	ENSP00000493349.1:n.*509G>T
ENST00000641856.1:c.*1195G>T	ENSP00000493224.1:n.*1195G>T
ENST00000642017.2:c.687G>T MANE Select	ENSP00000493302.2:p.Arg229=
ENST00000225573.4:c.687G>T	ENSP00000225573.4:p.Arg229=
ENST00000434554.6:c.558G>T	ENSP00000399960.2:p.Arg186=
ENST00000582171.5:c.*352G>T	ENSP00000463994.1:n.*352G>T
ENST00000584806.1:n.356G>T
ENST00000585320.5:c.*169G>T	ENSP00000462345.1:n.*169G>T
NM_018129.3:c.687G>T	NP_060599.1:p.Arg229=
XM_005257500.2:c.447G>T	XP_005257557.1:p.Arg149=
XM_011524968.1:c.402G>T	XP_011523270.1:p.Arg134=
XM_005257500.3:c.447G>T	XP_005257557.1:p.Arg149=
XM_011524968.2:c.402G>T	XP_011523270.1:p.Arg134=
XM_017024813.1:c.447G>T	XP_016880302.1:p.Arg149=
NM_018129.4:c.687G>T MANE Select	NP_060599.1:p.Arg229=