Canonical Allele Identifier: CA316570

Gene: PNPO

Linked Data

• ClinVar Variation Id: 206453
• ClinVar RCV Id: RCV000188501 ; RCV000696565 ; RCV002372151
• dbSNP Id: rs144390543
• ExAC: 17:46024060 G / A
• gnomAD v2: 17-46024060-G-A
• gnomAD v3: 17-47946694-G-A
• gnomAD v4: 17-47946694-G-A
• MyVariant Identifiers: chr17:g.46024060G>A (hg19) ; chr17:g.47946694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946694G>A , CM000679.2:g.47946694G>A	GRCh38
NC_000017.10:g.46024060G>A , CM000679.1:g.46024060G>A	GRCh37
NC_000017.9:g.43379059G>A	NCBI36
NG_008744.1:g.10172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.569G>A	ENSP00000225573.5:p.Arg190Gln
ENST00000434554.7:c.644G>A	ENSP00000399960.3:p.Arg215Gln
ENST00000582171.6:c.*363G>A	ENSP00000463994.1:n.*363G>A
ENST00000583599.6:c.458G>A	ENSP00000463919.2:p.Arg153Gln
ENST00000584061.6:c.629G>A	ENSP00000463972.2:p.Arg210Gln
ENST00000584806.2:n.367G>A
ENST00000641285.1:n.478G>A
ENST00000641305.1:n.2197G>A
ENST00000641323.1:c.*717G>A	ENSP00000492965.1:n.*717G>A
ENST00000641427.1:n.698G>A
ENST00000641511.1:c.430G>A
ENST00000641703.1:c.414G>A	ENSP00000493219.1:n.414G>A
ENST00000641709.1:c.*520G>A	ENSP00000493349.1:n.*520G>A
ENST00000641856.1:c.*1206G>A	ENSP00000493224.1:n.*1206G>A
ENST00000642017.2:c.698G>A MANE Select	ENSP00000493302.2:p.Arg233Gln
ENST00000225573.4:c.698G>A	ENSP00000225573.4:p.Arg233Gln
ENST00000434554.6:c.569G>A	ENSP00000399960.2:p.Arg190Gln
ENST00000582171.5:c.*363G>A	ENSP00000463994.1:n.*363G>A
ENST00000584806.1:n.367G>A
ENST00000585320.5:c.*180G>A	ENSP00000462345.1:n.*180G>A
NM_018129.3:c.698G>A	NP_060599.1:p.Arg233Gln
XM_005257500.2:c.458G>A	XP_005257557.1:p.Arg153Gln
XM_011524968.1:c.413G>A	XP_011523270.1:p.Arg138Gln
XM_005257500.3:c.458G>A	XP_005257557.1:p.Arg153Gln
XM_011524968.2:c.413G>A	XP_011523270.1:p.Arg138Gln
XM_017024813.1:c.458G>A	XP_016880302.1:p.Arg153Gln
NM_018129.4:c.698G>A MANE Select	NP_060599.1:p.Arg233Gln