Canonical Allele Identifier: CA90554531

Gene: OPA1

Linked Data

• dbSNP Id: rs34299467

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662930dup , CM000665.2:g.193662930dup	GRCh38
NC_000003.11:g.193380719dup , CM000665.1:g.193380719dup	GRCh37
NC_000003.10:g.194863413dup	NCBI36
NG_011605.1:g.74787dup , LRG_337:g.74787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2629dup MANE Select	ENSP00000355324.2:p.Glu877GlyfsTer13
ENST00000361828.7:c.2464dup	ENSP00000354429.3:p.Glu822GlyfsTer13
ENST00000361908.8:c.2575dup	ENSP00000354681.3:p.Glu859GlyfsTer13
ENST00000392436.7:c.2464dup	ENSP00000376231.3:p.Glu822GlyfsTer13
ENST00000392437.6:c.2518dup	ENSP00000376232.2:p.Glu840GlyfsTer13
ENST00000642289.1:c.2403dup
ENST00000642445.1:c.2464dup	ENSP00000495535.1:p.Glu822GlyfsTer13
ENST00000642593.1:c.*689dup	ENSP00000494273.1:n.*689dup
ENST00000643329.1:c.2146dup	ENSP00000493673.1:p.Glu716GlyfsTer13
ENST00000643737.1:c.*2545dup	ENSP00000494210.1:n.*2545dup
ENST00000644595.1:c.2464dup	ENSP00000494121.1:p.Glu822GlyfsTer13
ENST00000644629.1:c.2051dup
ENST00000644841.1:c.*948dup	ENSP00000493988.1:n.*948dup
ENST00000644959.1:c.2458dup
ENST00000645553.1:c.2479dup	ENSP00000494725.1:p.Glu827GlyfsTer13
ENST00000646085.1:c.*1942dup	ENSP00000494509.1:n.*1942dup
ENST00000646277.1:c.*1065dup	ENSP00000495289.1:n.*1065dup
ENST00000646544.1:c.1452dup
ENST00000646699.1:c.2403dup
ENST00000646793.1:c.2356dup	ENSP00000494512.1:p.Glu786GlyfsTer13
ENST00000361150.6:c.2467dup	ENSP00000354781.2:p.Glu823GlyfsTer13
ENST00000361510.6:c.2629dup	ENSP00000355324.2:p.Glu877GlyfsTer13
ENST00000361715.6:c.2521dup	ENSP00000355311.2:p.Glu841GlyfsTer13
ENST00000361828.6:c.2518dup	ENSP00000354429.2:p.Glu840GlyfsTer13
ENST00000361908.7:c.2575dup	ENSP00000354681.3:p.Glu859GlyfsTer13
ENST00000392438.7:c.2464dup	ENSP00000376233.3:p.Glu822GlyfsTer13
ENST00000445863.1:c.40dup	ENSP00000398358.1:p.Glu14GlyfsTer13
NM_015560.2:c.2464dup , LRG_337t1:c.2464dup	NP_056375.2:p.Glu822GlyfsTer13
NM_130831.2:c.2356dup	NP_570844.1:p.Glu786GlyfsTer13
NM_130832.2:c.2410dup	NP_570845.1:p.Glu804GlyfsTer13
NM_130833.2:c.2467dup	NP_570846.1:p.Glu823GlyfsTer13
NM_130834.2:c.2518dup	NP_570847.2:p.Glu840GlyfsTer13
NM_130835.2:c.2521dup	NP_570848.1:p.Glu841GlyfsTer13
NM_130836.2:c.2575dup	NP_570849.2:p.Glu859GlyfsTer13
NM_130837.2:c.2629dup , LRG_337t2:c.2629dup	NP_570850.2:p.Glu877GlyfsTer13
XM_011512863.1:c.2629dup	XP_011511165.1:p.Glu877GlyfsTer13
XM_011512864.1:c.2575dup	XP_011511166.1:p.Glu859GlyfsTer13
XM_011512865.1:c.2518dup	XP_011511167.1:p.Glu840GlyfsTer13
XM_011512866.1:c.2467dup	XP_011511168.1:p.Glu823GlyfsTer13
XM_011512867.1:c.2464dup	XP_011511169.1:p.Glu822GlyfsTer13
XM_011512868.1:c.2356dup	XP_011511170.1:p.Glu786GlyfsTer13
XR_924835.1:n.582+5990dup
NM_001354663.1:c.2095dup	NP_001341592.1:p.Glu699GlyfsTer13
NM_001354664.1:c.2092dup	NP_001341593.1:p.Glu698GlyfsTer13
XR_001740158.2:n.2883dup
XR_001740159.2:n.2718dup
XR_001741072.1:n.601-2845dup
XR_001741074.1:n.475+7878dup
XR_924835.2:n.600+5990dup
NM_001354663.2:c.2095dup	NP_001341592.1:p.Glu699GlyfsTer13
NM_001354664.2:c.2092dup	NP_001341593.1:p.Glu698GlyfsTer13
NM_130831.3:c.2356dup	NP_570844.1:p.Glu786GlyfsTer13
NM_130832.3:c.2410dup	NP_570845.1:p.Glu804GlyfsTer13
NM_130834.3:c.2518dup	NP_570847.2:p.Glu840GlyfsTer13
NM_130836.3:c.2575dup	NP_570849.2:p.Glu859GlyfsTer13
NM_015560.3:c.2464dup	NP_056375.2:p.Glu822GlyfsTer13
NM_130833.3:c.2467dup	NP_570846.1:p.Glu823GlyfsTer13
NM_130835.3:c.2521dup	NP_570848.1:p.Glu841GlyfsTer13
NM_130837.3:c.2629dup MANE Select	NP_570850.2:p.Glu877GlyfsTer13