Canonical Allele Identifier: CA343355879
Community Standard Title: NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)
Gene: PPOX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161169660G>T , CM000663.2:g.161169660G>T GRCh38
NC_000001.10:g.161139450G>T , CM000663.1:g.161139450G>T GRCh37
NC_000001.9:g.159406074G>T NCBI36
NG_011480.1:g.12865C>A
NG_012877.1:g.8270G>T
NG_012877.2:g.8270G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122764.3:c.808G>T MANE Select NP_001116236.1:p.Val270Leu
ENST00000367999.9:c.808G>T MANE Select ENSP00000356978.4:p.Val270Leu
NM_000309.3:c.808G>T NP_000300.1:p.Val270Leu
NM_000309.4:c.808G>T NP_000300.1:p.Val270Leu
NM_000309.5:c.808G>T NP_000300.1:p.Val270Leu
NM_001122764.1:c.808G>T NP_001116236.1:p.Val270Leu
NM_001350128.1:c.709G>T NP_001337057.1:p.Val237Leu
NM_001350128.2:c.709G>T NP_001337057.1:p.Val237Leu
NM_001350129.1:c.400G>T NP_001337058.1:p.Val134Leu
NM_001350129.2:c.400G>T NP_001337058.1:p.Val134Leu
NM_001350130.1:c.322G>T NP_001337059.1:p.Val108Leu
NM_001350130.2:c.322G>T NP_001337059.1:p.Val108Leu
NM_001350131.1:c.322G>T NP_001337060.1:p.Val108Leu
NM_001350131.2:c.322G>T NP_001337060.1:p.Val108Leu
NM_001365398.1:c.808G>T NP_001352327.1:p.Val270Leu
NM_001365399.1:c.808G>T NP_001352328.1:p.Val270Leu
NM_001365400.1:c.400G>T NP_001352329.1:p.Val134Leu
NM_001365401.1:c.322G>T NP_001352330.1:p.Val108Leu
ENST00000352210.9:c.808G>T ENSP00000343943.5:p.Val270Leu
ENST00000367999.8:c.808G>T ENSP00000356978.4:p.Val270Leu
ENST00000460611.1:n.374G>T
ENST00000462866.5:n.96-960G>T
ENST00000462977.1:n.985G>T
ENST00000470607.5:n.905G>T
ENST00000494216.1:n.846G>T
ENST00000495483.5:n.866G>T
ENST00000497522.5:n.474-960G>T
ENST00000535223.5:c.88-960G>T ENSP00000443769.1:n.88-960G>T
ENST00000537523.5:c.245+477G>T
ENST00000539753.5:c.223G>T ENSP00000439613.1:p.Val75Leu
ENST00000541818.1:n.377G>T
ENST00000544598.5:c.223-960G>T ENSP00000444216.1:n.223-960G>T
ENST00000650741.1:c.603G>T ENSP00000499106.1:n.603G>T
ENST00000651150.1:c.*565G>T ENSP00000498615.1:n.*565G>T
ENST00000652103.1:c.512G>T
ENST00000652182.1:c.808G>T ENSP00000498884.1:p.Val270Leu
ENST00000652297.1:c.564G>T ENSP00000498871.1:n.564G>T
ENST00000652473.1:c.*350G>T ENSP00000498477.1:n.*350G>T
XM_005245291.3:c.808G>T XP_005245348.2:p.Val270Leu
XM_005245291.4:c.808G>T XP_005245348.2:p.Val270Leu
XM_005245295.3:c.400G>T XP_005245352.2:p.Val134Leu
XM_006711402.2:c.823G>T XP_006711465.2:p.Val275Leu
XM_006711403.2:c.808G>T XP_006711466.2:p.Val270Leu
XM_006711404.2:c.823G>T XP_006711467.1:p.Val275Leu
XM_006711404.4:c.937G>T XP_006711467.2:p.Val313Leu
XM_006711406.2:c.400G>T XP_006711469.2:p.Val134Leu
XM_011509663.1:c.937G>T XP_011507965.1:p.Val313Leu
XM_011509663.2:c.937G>T XP_011507965.1:p.Val313Leu
XM_011509664.1:c.922G>T XP_011507966.1:p.Val308Leu
XM_011509665.1:c.937G>T XP_011507967.1:p.Val313Leu
XM_011509665.2:c.937G>T XP_011507967.1:p.Val313Leu
XM_011509666.1:c.937G>T XP_011507968.1:p.Val313Leu
XM_011509666.2:c.937G>T XP_011507968.1:p.Val313Leu
XM_011509667.1:c.823G>T XP_011507969.1:p.Val275Leu
XM_011509667.2:c.823G>T XP_011507969.1:p.Val275Leu
XM_011509668.1:c.823G>T XP_011507970.1:p.Val275Leu
XM_011509668.2:c.823G>T XP_011507970.1:p.Val275Leu
XM_011509669.1:c.823G>T XP_011507971.1:p.Val275Leu
XM_011509670.1:c.823G>T XP_011507972.1:p.Val275Leu
XM_011509670.2:c.823G>T XP_011507972.1:p.Val275Leu
XM_011509671.1:c.922G>T XP_011507973.1:p.Val308Leu
XM_011509672.1:c.823G>T XP_011507974.1:p.Val275Leu
XM_011509672.3:c.823G>T XP_011507974.1:p.Val275Leu
XM_011509673.1:c.673G>T XP_011507975.1:p.Val225Leu
XM_011509673.2:c.673G>T XP_011507975.1:p.Val225Leu
XM_011509674.1:c.936+477G>T XP_011507976.1:n.936+477G>T
XM_011509674.2:c.936+477G>T XP_011507976.1:n.936+477G>T
XM_011509675.1:c.709G>T XP_011507977.1:p.Val237Leu
XM_011509676.1:c.400G>T XP_011507978.1:p.Val134Leu
XM_011509677.1:c.400G>T XP_011507979.1:p.Val134Leu
XM_011509678.1:c.400G>T XP_011507980.1:p.Val134Leu
XM_011509679.1:c.400G>T XP_011507981.1:p.Val134Leu
XM_011509680.1:c.364G>T XP_011507982.1:p.Val122Leu
XM_011509681.1:c.322G>T XP_011507983.1:p.Val108Leu
XM_011509682.1:c.106G>T XP_011507984.1:p.Val36Leu
XM_017001559.1:c.937G>T XP_016857048.1:p.Val313Leu
XM_017001560.2:c.808G>T XP_016857049.1:p.Val270Leu
XM_017001562.1:c.400G>T XP_016857051.1:p.Val134Leu
XM_017001563.2:c.322G>T XP_016857052.1:p.Val108Leu
XM_017001564.1:c.322G>T XP_016857053.1:p.Val108Leu
XM_017001566.2:c.400G>T XP_016857055.1:p.Val134Leu
XM_017001567.1:c.400G>T XP_016857056.1:p.Val134Leu
XM_017001570.1:c.106G>T XP_016857059.1:p.Val36Leu
XM_017001571.1:c.337-960G>T XP_016857060.1:n.337-960G>T
XM_024447863.1:c.808G>T XP_024303631.1:p.Val270Leu
XM_024447864.1:c.673G>T XP_024303632.1:p.Val225Leu
XM_024447865.1:c.400G>T XP_024303633.1:p.Val134Leu
XM_024447866.1:c.400G>T XP_024303634.1:p.Val134Leu
XM_024447867.1:c.400G>T XP_024303635.1:p.Val134Leu
XM_024447874.1:c.400G>T XP_024303642.1:p.Val134Leu
XM_024447877.1:c.322G>T XP_024303645.1:p.Val108Leu
XR_921850.1:n.946G>T
XR_921850.2:n.1160G>T