Canonical Allele Identifier: CA8629260

Gene: PNPO

Linked Data

• ClinVar Variation Id: 1190895
• ClinVar RCV Id: RCV001551782
• dbSNP Id: rs758202034
• ExAC: 17:46023976 A / G
• gnomAD v2: 17-46023976-A-G
• gnomAD v3: 17-47946610-A-G
• gnomAD v4: 17-47946610-A-G
• MyVariant Identifiers: chr17:g.46023976A>G (hg19) ; chr17:g.47946610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946610A>G , CM000679.2:g.47946610A>G	GRCh38
NC_000017.10:g.46023976A>G , CM000679.1:g.46023976A>G	GRCh37
NC_000017.9:g.43378975A>G	NCBI36
NG_008744.1:g.10088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.489-4A>G	ENSP00000225573.5:n.489-4A>G
ENST00000434554.7:c.564-4A>G	ENSP00000399960.3:n.564-4A>G
ENST00000582171.6:c.*283-4A>G	ENSP00000463994.1:n.*283-4A>G
ENST00000583599.6:c.378-4A>G	ENSP00000463919.2:n.378-4A>G
ENST00000584061.6:c.549-4A>G	ENSP00000463972.2:n.549-4A>G
ENST00000584806.2:n.287-4A>G
ENST00000641285.1:n.398-4A>G
ENST00000641305.1:n.2117-4A>G
ENST00000641323.1:c.*637-4A>G	ENSP00000492965.1:n.*637-4A>G
ENST00000641427.1:n.618-4A>G
ENST00000641511.1:c.350-4A>G
ENST00000641703.1:c.334-4A>G	ENSP00000493219.1:n.334-4A>G
ENST00000641709.1:c.*440-4A>G	ENSP00000493349.1:n.*440-4A>G
ENST00000641856.1:c.*1126-4A>G	ENSP00000493224.1:n.*1126-4A>G
ENST00000642017.2:c.618-4A>G MANE Select	ENSP00000493302.2:n.618-4A>G
ENST00000225573.4:c.618-4A>G	ENSP00000225573.4:n.618-4A>G
ENST00000434554.6:c.489-4A>G	ENSP00000399960.2:n.489-4A>G
ENST00000582171.5:c.*283-4A>G	ENSP00000463994.1:n.*283-4A>G
ENST00000584806.1:n.287-4A>G
ENST00000585320.5:c.*100-4A>G	ENSP00000462345.1:n.*100-4A>G
NM_018129.3:c.618-4A>G	NP_060599.1:n.618-4A>G
XM_005257500.2:c.378-4A>G	XP_005257557.1:n.378-4A>G
XM_011524968.1:c.333-4A>G	XP_011523270.1:n.333-4A>G
XM_005257500.3:c.378-4A>G	XP_005257557.1:n.378-4A>G
XM_011524968.2:c.333-4A>G	XP_011523270.1:n.333-4A>G
XM_017024813.1:c.378-4A>G	XP_016880302.1:n.378-4A>G
NM_018129.4:c.618-4A>G MANE Select	NP_060599.1:n.618-4A>G