Canonical Allele Identifier: CA316550
Gene: PNPO HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47945914C>A
GRCh37 chr17:g.46023280C>A
gnomAD v2:
17:46023280 C / A
gnomAD v3:
17:47945914 C / A
gnomAD v4:
chr17-47945914-C-A
Joint Max Group AF 0.00000803 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV000188490
ClinVar Variation:
206442
dbSNP:
148597698
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47945914C>A , CM000679.2:g.47945914C>A GRCh38
NC_000017.10:g.46023280C>A , CM000679.1:g.46023280C>A GRCh37
NC_000017.9:g.43378279C>A NCBI36
NG_008744.1:g.9392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.417+302C>A ENSP00000225573.5:n.417+302C>A
ENST00000434554.7:c.417C>A ENSP00000399960.3:p.Tyr139Ter
ENST00000582171.6:c.*136C>A ENSP00000463994.1:n.*136C>A
ENST00000583245.6:n.443C>A
ENST00000583599.6:c.231C>A ENSP00000463919.2:p.Tyr77Ter
ENST00000584061.6:c.402C>A ENSP00000463972.2:p.Tyr134Ter
ENST00000584806.2:n.215+302C>A
ENST00000641285.1:n.251C>A
ENST00000641305.1:n.1637C>A
ENST00000641323.1:c.*490C>A ENSP00000492965.1:n.*490C>A
ENST00000641427.1:n.471C>A
ENST00000641511.1:c.279-409C>A
ENST00000641703.1:c.187C>A ENSP00000493219.1:n.187C>A
ENST00000641709.1:c.*293C>A ENSP00000493349.1:n.*293C>A
ENST00000641856.1:c.*979C>A ENSP00000493224.1:n.*979C>A
ENST00000642017.2:c.471C>A MANE Select ENSP00000493302.2:p.Tyr157Ter
ENST00000225573.4:c.471C>A ENSP00000225573.4:p.Tyr157Ter
ENST00000434554.6:c.417+302C>A ENSP00000399960.2:n.417+302C>A
ENST00000582171.5:c.*136C>A ENSP00000463994.1:n.*136C>A
ENST00000583245.5:c.*490C>A ENSP00000463520.1:n.*490C>A
ENST00000583599.5:c.231C>A ENSP00000463919.1:p.Tyr77Ter
ENST00000584806.1:n.215+302C>A
ENST00000585320.5:c.*29-409C>A ENSP00000462345.1:n.*29-409C>A
NM_018129.3:c.471C>A NP_060599.1:p.Tyr157Ter
XM_005257500.2:c.231C>A XP_005257557.1:p.Tyr77Ter
XM_011524968.1:c.186C>A XP_011523270.1:p.Tyr62Ter
XM_005257500.3:c.231C>A XP_005257557.1:p.Tyr77Ter
XM_011524968.2:c.186C>A XP_011523270.1:p.Tyr62Ter
XM_017024813.1:c.231C>A XP_016880302.1:p.Tyr77Ter
NM_018129.4:c.471C>A MANE Select NP_060599.1:p.Tyr157Ter
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