Canonical Allele Identifier: CA118329
Gene: PNPO HGNC NCBI

Linked Data

ClinVar Variation Id: 6523
dbSNP Id: rs104894629

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946681C>T , CM000679.2:g.47946681C>T GRCh38
NC_000017.10:g.46024047C>T , CM000679.1:g.46024047C>T GRCh37
NC_000017.9:g.43379046C>T NCBI36
NG_008744.1:g.10159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.556C>T ENSP00000225573.5:p.Arg186Trp
ENST00000434554.7:c.631C>T ENSP00000399960.3:p.Arg211Trp
ENST00000582171.6:c.*350C>T ENSP00000463994.1:n.*350C>T
ENST00000583599.6:c.445C>T ENSP00000463919.2:p.Arg149Trp
ENST00000584061.6:c.616C>T ENSP00000463972.2:p.Arg206Trp
ENST00000584806.2:n.354C>T
ENST00000641285.1:n.465C>T
ENST00000641305.1:n.2184C>T
ENST00000641323.1:c.*704C>T ENSP00000492965.1:n.*704C>T
ENST00000641427.1:n.685C>T
ENST00000641511.1:c.417C>T
ENST00000641703.1:c.401C>T ENSP00000493219.1:n.401C>T
ENST00000641709.1:c.*507C>T ENSP00000493349.1:n.*507C>T
ENST00000641856.1:c.*1193C>T ENSP00000493224.1:n.*1193C>T
ENST00000642017.2:c.685C>T MANE Select ENSP00000493302.2:p.Arg229Trp
ENST00000225573.4:c.685C>T ENSP00000225573.4:p.Arg229Trp
ENST00000434554.6:c.556C>T ENSP00000399960.2:p.Arg186Trp
ENST00000582171.5:c.*350C>T ENSP00000463994.1:n.*350C>T
ENST00000584806.1:n.354C>T
ENST00000585320.5:c.*167C>T ENSP00000462345.1:n.*167C>T
NM_018129.3:c.685C>T NP_060599.1:p.Arg229Trp
XM_005257500.2:c.445C>T XP_005257557.1:p.Arg149Trp
XM_011524968.1:c.400C>T XP_011523270.1:p.Arg134Trp
XM_005257500.3:c.445C>T XP_005257557.1:p.Arg149Trp
XM_011524968.2:c.400C>T XP_011523270.1:p.Arg134Trp
XM_017024813.1:c.445C>T XP_016880302.1:p.Arg149Trp
NM_018129.4:c.685C>T MANE Select NP_060599.1:p.Arg229Trp