Canonical Allele Identifier: CA400063222

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024093G>C (hg19) ; chr17:g.47946727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946727G>C , CM000679.2:g.47946727G>C	GRCh38
NC_000017.10:g.46024093G>C , CM000679.1:g.46024093G>C	GRCh37
NC_000017.9:g.43379092G>C	NCBI36
NG_008744.1:g.10205G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.602G>C	ENSP00000225573.5:p.Gly201Ala
ENST00000434554.7:c.677G>C	ENSP00000399960.3:p.Gly226Ala
ENST00000582171.6:c.*396G>C	ENSP00000463994.1:n.*396G>C
ENST00000583599.6:c.491G>C	ENSP00000463919.2:p.Gly164Ala
ENST00000584061.6:c.662G>C	ENSP00000463972.2:p.Gly221Ala
ENST00000584806.2:n.400G>C
ENST00000641305.1:n.2230G>C
ENST00000641323.1:c.*750G>C	ENSP00000492965.1:n.*750G>C
ENST00000641427.1:n.731G>C
ENST00000641703.1:c.447G>C	ENSP00000493219.1:n.447G>C
ENST00000641709.1:c.*553G>C	ENSP00000493349.1:n.*553G>C
ENST00000641856.1:c.*1239G>C	ENSP00000493224.1:n.*1239G>C
ENST00000642017.2:c.731G>C MANE Select	ENSP00000493302.2:p.Gly244Ala
ENST00000225573.4:c.731G>C	ENSP00000225573.4:p.Gly244Ala
ENST00000434554.6:c.602G>C	ENSP00000399960.2:p.Gly201Ala
ENST00000582171.5:c.*396G>C	ENSP00000463994.1:n.*396G>C
ENST00000584806.1:n.400G>C
ENST00000585320.5:c.*213G>C	ENSP00000462345.1:n.*213G>C
NM_018129.3:c.731G>C	NP_060599.1:p.Gly244Ala
XM_005257500.2:c.491G>C	XP_005257557.1:p.Gly164Ala
XM_011524968.1:c.446G>C	XP_011523270.1:p.Gly149Ala
XM_005257500.3:c.491G>C	XP_005257557.1:p.Gly164Ala
XM_011524968.2:c.446G>C	XP_011523270.1:p.Gly149Ala
XM_017024813.1:c.491G>C	XP_016880302.1:p.Gly164Ala
NM_018129.4:c.731G>C MANE Select	NP_060599.1:p.Gly244Ala