Canonical Allele Identifier: CA772599191

Gene: PNPO

Linked Data

• dbSNP Id: rs1383025990
• gnomAD v4: 17-47946972-G-A
• MyVariant Identifiers: chr17:g.46024338G>A (hg19) ; chr17:g.47946972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946972G>A , CM000679.2:g.47946972G>A	GRCh38
NC_000017.10:g.46024338G>A , CM000679.1:g.46024338G>A	GRCh37
NC_000017.9:g.43379337G>A	NCBI36
NG_008744.1:g.10450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*190G>A	ENSP00000225573.5:n.*190G>A
ENST00000434554.7:c.*190G>A	ENSP00000399960.3:n.*190G>A
ENST00000582171.6:c.*641G>A	ENSP00000463994.1:n.*641G>A
ENST00000584806.2:n.645G>A
ENST00000641305.1:n.2475G>A
ENST00000641323.1:c.*995G>A	ENSP00000492965.1:n.*995G>A
ENST00000641427.1:n.976G>A
ENST00000641703.1:c.692G>A	ENSP00000493219.1:n.692G>A
ENST00000641709.1:c.*798G>A	ENSP00000493349.1:n.*798G>A
ENST00000641856.1:c.*1484G>A	ENSP00000493224.1:n.*1484G>A
ENST00000642017.2:c.*190G>A MANE Select	ENSP00000493302.2:n.*190G>A
ENST00000225573.4:c.*190G>A	ENSP00000225573.4:n.*190G>A
ENST00000434554.6:c.*190G>A	ENSP00000399960.2:n.*190G>A
ENST00000582171.5:c.*641G>A	ENSP00000463994.1:n.*641G>A
NM_018129.3:c.*190G>A	NP_060599.1:n.*190G>A
XM_005257500.2:c.*190G>A	XP_005257557.1:n.*190G>A
XM_011524968.1:c.*190G>A	XP_011523270.1:n.*190G>A
XM_005257500.3:c.*190G>A	XP_005257557.1:n.*190G>A
XM_011524968.2:c.*190G>A	XP_011523270.1:n.*190G>A
XM_017024813.1:c.*190G>A	XP_016880302.1:n.*190G>A
NM_018129.4:c.*190G>A MANE Select	NP_060599.1:n.*190G>A