Canonical Allele Identifier: CA500454187

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024112G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946746G>A , CM000679.2:g.47946746G>A	GRCh38
NC_000017.10:g.46024112G>A , CM000679.1:g.46024112G>A	GRCh37
NC_000017.9:g.43379111G>A	NCBI36
NG_008744.1:g.10224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.621G>A	ENSP00000225573.5:p.Gly207=
ENST00000434554.7:c.696G>A	ENSP00000399960.3:p.Gly232=
ENST00000582171.6:c.*415G>A	ENSP00000463994.1:n.*415G>A
ENST00000584061.6:c.681G>A	ENSP00000463972.2:p.Gly227=
ENST00000584806.2:n.419G>A
ENST00000641305.1:n.2249G>A
ENST00000641323.1:c.*769G>A	ENSP00000492965.1:n.*769G>A
ENST00000641427.1:n.750G>A
ENST00000641703.1:c.466G>A	ENSP00000493219.1:n.466G>A
ENST00000641709.1:c.*572G>A	ENSP00000493349.1:n.*572G>A
ENST00000641856.1:c.*1258G>A	ENSP00000493224.1:n.*1258G>A
ENST00000642017.2:c.750G>A MANE Select	ENSP00000493302.2:p.Gly250=
ENST00000225573.4:c.750G>A	ENSP00000225573.4:p.Gly250=
ENST00000434554.6:c.621G>A	ENSP00000399960.2:p.Gly207=
ENST00000582171.5:c.*415G>A	ENSP00000463994.1:n.*415G>A
ENST00000584806.1:n.419G>A
ENST00000585320.5:c.*232G>A	ENSP00000462345.1:n.*232G>A
NM_018129.3:c.750G>A	NP_060599.1:p.Gly250=
XM_005257500.2:c.510G>A	XP_005257557.1:p.Gly170=
XM_011524968.1:c.465G>A	XP_011523270.1:p.Gly155=
XM_005257500.3:c.510G>A	XP_005257557.1:p.Gly170=
XM_011524968.2:c.465G>A	XP_011523270.1:p.Gly155=
XM_017024813.1:c.510G>A	XP_016880302.1:p.Gly170=
NM_018129.4:c.750G>A MANE Select	NP_060599.1:p.Gly250=