Canonical Allele Identifier: CA316568

Gene: PNPO

Linked Data

• ClinVar Variation Id: 206452
• ClinVar RCV Id: RCV000208780 ; RCV000188500 ; RCV004539748
• dbSNP Id: rs773450573
• ExAC: 17:46024048 G / A
• gnomAD v2: 17-46024048-G-A
• gnomAD v3: 17-47946682-G-A
• gnomAD v4: 17-47946682-G-A
• MyVariant Identifiers: chr17:g.46024048G>A (hg19) ; chr17:g.47946682G>A (hg38)
• PubMed: PMID:24266778

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946682G>A , CM000679.2:g.47946682G>A	GRCh38
NC_000017.10:g.46024048G>A , CM000679.1:g.46024048G>A	GRCh37
NC_000017.9:g.43379047G>A	NCBI36
NG_008744.1:g.10160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.557G>A	ENSP00000225573.5:p.Arg186Gln
ENST00000434554.7:c.632G>A	ENSP00000399960.3:p.Arg211Gln
ENST00000582171.6:c.*351G>A	ENSP00000463994.1:n.*351G>A
ENST00000583599.6:c.446G>A	ENSP00000463919.2:p.Arg149Gln
ENST00000584061.6:c.617G>A	ENSP00000463972.2:p.Arg206Gln
ENST00000584806.2:n.355G>A
ENST00000641285.1:n.466G>A
ENST00000641305.1:n.2185G>A
ENST00000641323.1:c.*705G>A	ENSP00000492965.1:n.*705G>A
ENST00000641427.1:n.686G>A
ENST00000641511.1:c.418G>A
ENST00000641703.1:c.402G>A	ENSP00000493219.1:n.402G>A
ENST00000641709.1:c.*508G>A	ENSP00000493349.1:n.*508G>A
ENST00000641856.1:c.*1194G>A	ENSP00000493224.1:n.*1194G>A
ENST00000642017.2:c.686G>A MANE Select	ENSP00000493302.2:p.Arg229Gln
ENST00000225573.4:c.686G>A	ENSP00000225573.4:p.Arg229Gln
ENST00000434554.6:c.557G>A	ENSP00000399960.2:p.Arg186Gln
ENST00000582171.5:c.*351G>A	ENSP00000463994.1:n.*351G>A
ENST00000584806.1:n.355G>A
ENST00000585320.5:c.*168G>A	ENSP00000462345.1:n.*168G>A
NM_018129.3:c.686G>A	NP_060599.1:p.Arg229Gln
XM_005257500.2:c.446G>A	XP_005257557.1:p.Arg149Gln
XM_011524968.1:c.401G>A	XP_011523270.1:p.Arg134Gln
XM_005257500.3:c.446G>A	XP_005257557.1:p.Arg149Gln
XM_011524968.2:c.401G>A	XP_011523270.1:p.Arg134Gln
XM_017024813.1:c.446G>A	XP_016880302.1:p.Arg149Gln
NM_018129.4:c.686G>A MANE Select	NP_060599.1:p.Arg229Gln