Canonical Allele Identifier: CA343353594

Gene: PPOX

Linked Data

• MyVariant Identifiers: chr1:g.161137887C>A (hg19) ; chr1:g.161168097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161168097C>A , CM000663.2:g.161168097C>A	GRCh38
NC_000001.10:g.161137887C>A , CM000663.1:g.161137887C>A	GRCh37
NC_000001.9:g.159404511C>A	NCBI36
NG_012877.1:g.6707C>A
NG_012877.2:g.6707C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367999.9:c.441C>A MANE Select	ENSP00000356978.4:p.His147Gln
ENST00000650741.1:c.217C>A	ENSP00000499106.1:n.217C>A
ENST00000651150.1:c.*211C>A	ENSP00000498615.1:n.*211C>A
ENST00000652103.1:c.176-335C>A
ENST00000652182.1:c.441C>A	ENSP00000498884.1:p.His147Gln
ENST00000652297.1:c.210C>A	ENSP00000498871.1:p.His70Gln
ENST00000652473.1:c.441C>A	ENSP00000498477.1:p.His147Gln
ENST00000352210.9:c.441C>A	ENSP00000343943.5:p.His147Gln
ENST00000367999.8:c.441C>A	ENSP00000356978.4:p.His147Gln
ENST00000462866.5:n.95+1163C>A
ENST00000468968.6:n.874C>A
ENST00000470607.5:n.683C>A
ENST00000479246.5:n.819C>A
ENST00000490768.1:n.747C>A
ENST00000494216.1:n.3C>A
ENST00000495483.5:n.511-316C>A
ENST00000497522.5:n.473+863C>A
ENST00000535223.5:c.87+1163C>A	ENSP00000443769.1:n.87+1163C>A
ENST00000539753.5:c.222+863C>A	ENSP00000439613.1:n.222+863C>A
ENST00000544598.5:c.222+863C>A	ENSP00000444216.1:n.222+863C>A
NM_000309.3:c.441C>A	NP_000300.1:p.His147Gln
NM_001122764.1:c.441C>A	NP_001116236.1:p.His147Gln
XM_005245291.3:c.441C>A	XP_005245348.2:p.His147Gln
XM_005245295.3:c.14C>A	XP_005245352.2:p.Thr5Lys
XM_006711402.2:c.456C>A	XP_006711465.2:p.His152Gln
XM_006711403.2:c.441C>A	XP_006711466.2:p.His147Gln
XM_006711404.2:c.456C>A	XP_006711467.1:p.His152Gln
XM_006711406.2:c.14C>A	XP_006711469.2:p.Thr5Lys
XM_011509663.1:c.570C>A	XP_011507965.1:p.His190Gln
XM_011509664.1:c.555C>A	XP_011507966.1:p.His185Gln
XM_011509665.1:c.570C>A	XP_011507967.1:p.His190Gln
XM_011509666.1:c.570C>A	XP_011507968.1:p.His190Gln
XM_011509667.1:c.456C>A	XP_011507969.1:p.His152Gln
XM_011509668.1:c.456C>A	XP_011507970.1:p.His152Gln
XM_011509669.1:c.456C>A	XP_011507971.1:p.His152Gln
XM_011509670.1:c.468-316C>A	XP_011507972.1:n.468-316C>A
XM_011509671.1:c.555C>A	XP_011507973.1:p.His185Gln
XM_011509672.1:c.468-316C>A	XP_011507974.1:n.468-316C>A
XM_011509673.1:c.337-335C>A	XP_011507975.1:n.337-335C>A
XM_011509674.1:c.570C>A	XP_011507976.1:p.His190Gln
XM_011509675.1:c.354-316C>A	XP_011507977.1:n.354-316C>A
XM_011509676.1:c.14C>A	XP_011507978.1:p.Thr5Lys
XM_011509677.1:c.14C>A	XP_011507979.1:p.Thr5Lys
XM_011509678.1:c.14C>A	XP_011507980.1:p.Thr5Lys
XM_011509679.1:c.14C>A	XP_011507981.1:p.Thr5Lys
XM_011509680.1:c.27+146C>A	XP_011507982.1:n.27+146C>A
XM_011509681.1:c.-34-316C>A	XP_011507983.1:n.-34-316C>A
XM_011509682.1:c.-117C>A	XP_011507984.1:n.-117C>A
XR_921850.1:n.579C>A
NM_000309.4:c.441C>A	NP_000300.1:p.His147Gln
NM_001122764.3:c.441C>A MANE Select	NP_001116236.1:p.His147Gln
NM_001350128.1:c.354-316C>A	NP_001337057.1:n.354-316C>A
NM_001350129.1:c.14C>A	NP_001337058.1:p.Thr5Lys
NM_001350130.1:c.-46C>A	NP_001337059.1:n.-46C>A
NM_001350131.1:c.-34-316C>A	NP_001337060.1:n.-34-316C>A
XM_005245291.4:c.441C>A	XP_005245348.2:p.His147Gln
XM_006711404.4:c.570C>A	XP_006711467.2:p.His190Gln
XM_011509663.2:c.570C>A	XP_011507965.1:p.His190Gln
XM_011509665.2:c.570C>A	XP_011507967.1:p.His190Gln
XM_011509666.2:c.570C>A	XP_011507968.1:p.His190Gln
XM_011509667.2:c.456C>A	XP_011507969.1:p.His152Gln
XM_011509668.2:c.456C>A	XP_011507970.1:p.His152Gln
XM_011509670.2:c.468-316C>A	XP_011507972.1:n.468-316C>A
XM_011509672.3:c.468-316C>A	XP_011507974.1:n.468-316C>A
XM_011509673.2:c.337-335C>A	XP_011507975.1:n.337-335C>A
XM_011509674.2:c.570C>A	XP_011507976.1:p.His190Gln
XM_017001559.1:c.570C>A	XP_016857048.1:p.His190Gln
XM_017001560.2:c.441C>A	XP_016857049.1:p.His147Gln
XM_017001562.1:c.14C>A	XP_016857051.1:p.Thr5Lys
XM_017001563.2:c.-46C>A	XP_016857052.1:n.-46C>A
XM_017001564.1:c.-35+146C>A	XP_016857053.1:n.-35+146C>A
XM_017001566.2:c.14C>A	XP_016857055.1:p.Thr5Lys
XM_017001567.1:c.14C>A	XP_016857056.1:p.Thr5Lys
XM_017001570.1:c.-87+863C>A	XP_016857059.1:n.-87+863C>A
XM_017001571.1:c.336+863C>A	XP_016857060.1:n.336+863C>A
XM_024447863.1:c.441C>A	XP_024303631.1:p.His147Gln
XM_024447864.1:c.337-335C>A	XP_024303632.1:n.337-335C>A
XM_024447865.1:c.14C>A	XP_024303633.1:p.Thr5Lys
XM_024447866.1:c.14C>A	XP_024303634.1:p.Thr5Lys
XM_024447867.1:c.14C>A	XP_024303635.1:p.Thr5Lys
XM_024447874.1:c.14C>A	XP_024303642.1:p.Thr5Lys
XM_024447877.1:c.-46C>A	XP_024303645.1:n.-46C>A
XR_921850.2:n.793C>A
NM_000309.5:c.441C>A	NP_000300.1:p.His147Gln
NM_001350128.2:c.354-316C>A	NP_001337057.1:n.354-316C>A
NM_001350129.2:c.14C>A	NP_001337058.1:p.Thr5Lys
NM_001350130.2:c.-46C>A	NP_001337059.1:n.-46C>A
NM_001350131.2:c.-34-316C>A	NP_001337060.1:n.-34-316C>A
NM_001365398.1:c.441C>A	NP_001352327.1:p.His147Gln
NM_001365399.1:c.441C>A	NP_001352328.1:p.His147Gln
NM_001365400.1:c.14C>A	NP_001352329.1:p.Thr5Lys
NM_001365401.1:c.-46C>A	NP_001352330.1:n.-46C>A