Canonical Allele Identifier: CA280980

Gene: PPOX

Linked Data

• ClinVar Variation Id: 8693
• ClinVar RCV Id: RCV000009230 ; RCV000816933
• dbSNP Id: rs121918323
• MyVariant Identifiers: chr1:g.161138860G>C (hg19) ; chr1:g.161169070G>C (hg38)
• PubMed: PMID:8852667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161169070G>C , CM000663.2:g.161169070G>C	GRCh38
NC_000001.10:g.161138860G>C , CM000663.1:g.161138860G>C	GRCh37
NC_000001.9:g.159405484G>C	NCBI36
NG_012877.1:g.7680G>C
NG_012877.2:g.7680G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367999.9:c.694G>C MANE Select	ENSP00000356978.4:p.Gly232Arg
ENST00000650741.1:c.489G>C	ENSP00000499106.1:n.489G>C
ENST00000651150.1:c.*451G>C	ENSP00000498615.1:n.*451G>C
ENST00000652103.1:c.398G>C
ENST00000652182.1:c.694G>C	ENSP00000498884.1:p.Gly232Arg
ENST00000652297.1:c.450G>C	ENSP00000498871.1:p.Glu150Asp
ENST00000652473.1:c.*236G>C	ENSP00000498477.1:n.*236G>C
ENST00000352210.9:c.694G>C	ENSP00000343943.5:p.Gly232Arg
ENST00000367999.8:c.694G>C	ENSP00000356978.4:p.Gly232Arg
ENST00000460611.1:n.260G>C
ENST00000462866.5:n.96-1550G>C
ENST00000462977.1:n.395G>C
ENST00000470607.5:n.791G>C
ENST00000494216.1:n.256G>C
ENST00000495483.5:n.752G>C
ENST00000497522.5:n.474-1550G>C
ENST00000535223.5:c.88-1550G>C	ENSP00000443769.1:n.88-1550G>C
ENST00000537523.5:c.132G>C
ENST00000539753.5:c.223-590G>C	ENSP00000439613.1:n.223-590G>C
ENST00000544598.5:c.223-1550G>C	ENSP00000444216.1:n.223-1550G>C
NM_000309.3:c.694G>C	NP_000300.1:p.Gly232Arg
NM_001122764.1:c.694G>C	NP_001116236.1:p.Gly232Arg
XM_005245291.3:c.694G>C	XP_005245348.2:p.Gly232Arg
XM_005245295.3:c.286G>C	XP_005245352.2:p.Gly96Arg
XM_006711402.2:c.709G>C	XP_006711465.2:p.Gly237Arg
XM_006711403.2:c.694G>C	XP_006711466.2:p.Gly232Arg
XM_006711404.2:c.709G>C	XP_006711467.1:p.Gly237Arg
XM_006711406.2:c.286G>C	XP_006711469.2:p.Gly96Arg
XM_011509663.1:c.823G>C	XP_011507965.1:p.Gly275Arg
XM_011509664.1:c.808G>C	XP_011507966.1:p.Gly270Arg
XM_011509665.1:c.823G>C	XP_011507967.1:p.Gly275Arg
XM_011509666.1:c.823G>C	XP_011507968.1:p.Gly275Arg
XM_011509667.1:c.709G>C	XP_011507969.1:p.Gly237Arg
XM_011509668.1:c.709G>C	XP_011507970.1:p.Gly237Arg
XM_011509669.1:c.709G>C	XP_011507971.1:p.Gly237Arg
XM_011509670.1:c.709G>C	XP_011507972.1:p.Gly237Arg
XM_011509671.1:c.808G>C	XP_011507973.1:p.Gly270Arg
XM_011509672.1:c.709G>C	XP_011507974.1:p.Gly237Arg
XM_011509673.1:c.559G>C	XP_011507975.1:p.Gly187Arg
XM_011509674.1:c.823G>C	XP_011507976.1:p.Gly275Arg
XM_011509675.1:c.595G>C	XP_011507977.1:p.Gly199Arg
XM_011509676.1:c.286G>C	XP_011507978.1:p.Gly96Arg
XM_011509677.1:c.286G>C	XP_011507979.1:p.Gly96Arg
XM_011509678.1:c.286G>C	XP_011507980.1:p.Gly96Arg
XM_011509679.1:c.286G>C	XP_011507981.1:p.Gly96Arg
XM_011509680.1:c.250G>C	XP_011507982.1:p.Gly84Arg
XM_011509681.1:c.208G>C	XP_011507983.1:p.Gly70Arg
XM_011509682.1:c.-9G>C	XP_011507984.1:n.-9G>C
XR_921850.1:n.832G>C
NM_000309.4:c.694G>C	NP_000300.1:p.Gly232Arg
NM_001122764.3:c.694G>C MANE Select	NP_001116236.1:p.Gly232Arg
NM_001350128.1:c.595G>C	NP_001337057.1:p.Gly199Arg
NM_001350129.1:c.286G>C	NP_001337058.1:p.Gly96Arg
NM_001350130.1:c.208G>C	NP_001337059.1:p.Gly70Arg
NM_001350131.1:c.208G>C	NP_001337060.1:p.Gly70Arg
XM_005245291.4:c.694G>C	XP_005245348.2:p.Gly232Arg
XM_006711404.4:c.823G>C	XP_006711467.2:p.Gly275Arg
XM_011509663.2:c.823G>C	XP_011507965.1:p.Gly275Arg
XM_011509665.2:c.823G>C	XP_011507967.1:p.Gly275Arg
XM_011509666.2:c.823G>C	XP_011507968.1:p.Gly275Arg
XM_011509667.2:c.709G>C	XP_011507969.1:p.Gly237Arg
XM_011509668.2:c.709G>C	XP_011507970.1:p.Gly237Arg
XM_011509670.2:c.709G>C	XP_011507972.1:p.Gly237Arg
XM_011509672.3:c.709G>C	XP_011507974.1:p.Gly237Arg
XM_011509673.2:c.559G>C	XP_011507975.1:p.Gly187Arg
XM_011509674.2:c.823G>C	XP_011507976.1:p.Gly275Arg
XM_017001559.1:c.823G>C	XP_016857048.1:p.Gly275Arg
XM_017001560.2:c.694G>C	XP_016857049.1:p.Gly232Arg
XM_017001562.1:c.286G>C	XP_016857051.1:p.Gly96Arg
XM_017001563.2:c.208G>C	XP_016857052.1:p.Gly70Arg
XM_017001564.1:c.208G>C	XP_016857053.1:p.Gly70Arg
XM_017001566.2:c.286G>C	XP_016857055.1:p.Gly96Arg
XM_017001567.1:c.286G>C	XP_016857056.1:p.Gly96Arg
XM_017001570.1:c.-9G>C	XP_016857059.1:n.-9G>C
XM_017001571.1:c.337-1550G>C	XP_016857060.1:n.337-1550G>C
XM_024447863.1:c.694G>C	XP_024303631.1:p.Gly232Arg
XM_024447864.1:c.559G>C	XP_024303632.1:p.Gly187Arg
XM_024447865.1:c.286G>C	XP_024303633.1:p.Gly96Arg
XM_024447866.1:c.286G>C	XP_024303634.1:p.Gly96Arg
XM_024447867.1:c.286G>C	XP_024303635.1:p.Gly96Arg
XM_024447874.1:c.286G>C	XP_024303642.1:p.Gly96Arg
XM_024447877.1:c.208G>C	XP_024303645.1:p.Gly70Arg
XR_921850.2:n.1046G>C
NM_000309.5:c.694G>C	NP_000300.1:p.Gly232Arg
NM_001350128.2:c.595G>C	NP_001337057.1:p.Gly199Arg
NM_001350129.2:c.286G>C	NP_001337058.1:p.Gly96Arg
NM_001350130.2:c.208G>C	NP_001337059.1:p.Gly70Arg
NM_001350131.2:c.208G>C	NP_001337060.1:p.Gly70Arg
NM_001365398.1:c.694G>C	NP_001352327.1:p.Gly232Arg
NM_001365399.1:c.694G>C	NP_001352328.1:p.Gly232Arg
NM_001365400.1:c.286G>C	NP_001352329.1:p.Gly96Arg
NM_001365401.1:c.208G>C	NP_001352330.1:p.Gly70Arg