Canonical Allele Identifier: CA1430270715

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662945G= , CM000665.2:g.193662945G=	GRCh38
NC_000003.11:g.193380734G= , CM000665.1:g.193380734G=	GRCh37
NC_000003.10:g.194863428G=	NCBI36
NG_011605.1:g.74802G= , LRG_337:g.74802G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2644G= MANE Select	ENSP00000355324.2:p.Glu882=
ENST00000361828.7:c.2479G=	ENSP00000354429.3:p.Glu827=
ENST00000361908.8:c.2590G=	ENSP00000354681.3:p.Glu864=
ENST00000392436.7:c.2479G=	ENSP00000376231.3:p.Glu827=
ENST00000392437.6:c.2533G=	ENSP00000376232.2:p.Glu845=
ENST00000642289.1:c.2418G=
ENST00000642445.1:c.2479G=	ENSP00000495535.1:p.Glu827=
ENST00000642593.1:c.*704G=	ENSP00000494273.1:n.*704G=
ENST00000643329.1:c.2161G=	ENSP00000493673.1:p.Glu721=
ENST00000643737.1:c.*2560G=	ENSP00000494210.1:n.*2560G=
ENST00000644595.1:c.2479G=	ENSP00000494121.1:p.Glu827=
ENST00000644629.1:c.2066G=
ENST00000644841.1:c.*963G=	ENSP00000493988.1:n.*963G=
ENST00000644959.1:c.2473G=
ENST00000645553.1:c.2494G=	ENSP00000494725.1:p.Glu832=
ENST00000646085.1:c.*1957G=	ENSP00000494509.1:n.*1957G=
ENST00000646277.1:c.*1080G=	ENSP00000495289.1:n.*1080G=
ENST00000646544.1:c.1467G=
ENST00000646699.1:c.2418G=
ENST00000646793.1:c.2371G=	ENSP00000494512.1:p.Glu791=
ENST00000361150.6:c.2482G=	ENSP00000354781.2:p.Glu828=
ENST00000361510.6:c.2644G=	ENSP00000355324.2:p.Glu882=
ENST00000361715.6:c.2536G=	ENSP00000355311.2:p.Glu846=
ENST00000361828.6:c.2533G=	ENSP00000354429.2:p.Glu845=
ENST00000361908.7:c.2590G=	ENSP00000354681.3:p.Glu864=
ENST00000392438.7:c.2479G=	ENSP00000376233.3:p.Glu827=
ENST00000445863.1:c.55G=	ENSP00000398358.1:p.Glu19=
NM_015560.2:c.2479G= , LRG_337t1:c.2479G=	NP_056375.2:p.Glu827=
NM_130831.2:c.2371G=	NP_570844.1:p.Glu791=
NM_130832.2:c.2425G=	NP_570845.1:p.Glu809=
NM_130833.2:c.2482G=	NP_570846.1:p.Glu828=
NM_130834.2:c.2533G=	NP_570847.2:p.Glu845=
NM_130835.2:c.2536G=	NP_570848.1:p.Glu846=
NM_130836.2:c.2590G=	NP_570849.2:p.Glu864=
NM_130837.2:c.2644G= , LRG_337t2:c.2644G=	NP_570850.2:p.Glu882=
XM_011512863.1:c.2644G=	XP_011511165.1:p.Glu882=
XM_011512864.1:c.2590G=	XP_011511166.1:p.Glu864=
XM_011512865.1:c.2533G=	XP_011511167.1:p.Glu845=
XM_011512866.1:c.2482G=	XP_011511168.1:p.Glu828=
XM_011512867.1:c.2479G=	XP_011511169.1:p.Glu827=
XM_011512868.1:c.2371G=	XP_011511170.1:p.Glu791=
XR_924835.1:n.582+5975C=
NM_001354663.1:c.2110G=	NP_001341592.1:p.Glu704=
NM_001354664.1:c.2107G=	NP_001341593.1:p.Glu703=
XR_001740158.2:n.2898G=
XR_001740159.2:n.2733G=
XR_001741072.1:n.601-2860C=
XR_001741074.1:n.475+7863C=
XR_924835.2:n.600+5975C=
NM_001354663.2:c.2110G=	NP_001341592.1:p.Glu704=
NM_001354664.2:c.2107G=	NP_001341593.1:p.Glu703=
NM_130831.3:c.2371G=	NP_570844.1:p.Glu791=
NM_130832.3:c.2425G=	NP_570845.1:p.Glu809=
NM_130834.3:c.2533G=	NP_570847.2:p.Glu845=
NM_130836.3:c.2590G=	NP_570849.2:p.Glu864=
NM_015560.3:c.2479G=	NP_056375.2:p.Glu827=
NM_130833.3:c.2482G=	NP_570846.1:p.Glu828=
NM_130835.3:c.2536G=	NP_570848.1:p.Glu846=
NM_130837.3:c.2644G= MANE Select	NP_570850.2:p.Glu882=