Canonical Allele Identifier: CA626686088

Gene: PNPO

Linked Data

• dbSNP Id: rs1461423845
• gnomAD v2: 17-46024181-G-A
• gnomAD v4: 17-47946815-G-A
• MyVariant Identifiers: chr17:g.46024181G>A (hg19) ; chr17:g.47946815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946815G>A , CM000679.2:g.47946815G>A	GRCh38
NC_000017.10:g.46024181G>A , CM000679.1:g.46024181G>A	GRCh37
NC_000017.9:g.43379180G>A	NCBI36
NG_008744.1:g.10293G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.*33G>A	ENSP00000225573.5:n.*33G>A
ENST00000434554.7:c.*33G>A	ENSP00000399960.3:n.*33G>A
ENST00000582171.6:c.*484G>A	ENSP00000463994.1:n.*484G>A
ENST00000584806.2:n.488G>A
ENST00000641305.1:n.2318G>A
ENST00000641323.1:c.*838G>A	ENSP00000492965.1:n.*838G>A
ENST00000641427.1:n.819G>A
ENST00000641703.1:c.535G>A	ENSP00000493219.1:n.535G>A
ENST00000641709.1:c.*641G>A	ENSP00000493349.1:n.*641G>A
ENST00000641856.1:c.*1327G>A	ENSP00000493224.1:n.*1327G>A
ENST00000642017.2:c.*33G>A MANE Select	ENSP00000493302.2:n.*33G>A
ENST00000225573.4:c.*33G>A	ENSP00000225573.4:n.*33G>A
ENST00000434554.6:c.*33G>A	ENSP00000399960.2:n.*33G>A
ENST00000582171.5:c.*484G>A	ENSP00000463994.1:n.*484G>A
ENST00000584806.1:n.488G>A
NM_018129.3:c.*33G>A	NP_060599.1:n.*33G>A
XM_005257500.2:c.*33G>A	XP_005257557.1:n.*33G>A
XM_011524968.1:c.*33G>A	XP_011523270.1:n.*33G>A
XM_005257500.3:c.*33G>A	XP_005257557.1:n.*33G>A
XM_011524968.2:c.*33G>A	XP_011523270.1:n.*33G>A
XM_017024813.1:c.*33G>A	XP_016880302.1:n.*33G>A
NM_018129.4:c.*33G>A MANE Select	NP_060599.1:n.*33G>A