Canonical Allele Identifier: CA1430270670

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662899T= , CM000665.2:g.193662899T=	GRCh38
NC_000003.11:g.193380688T= , CM000665.1:g.193380688T=	GRCh37
NC_000003.10:g.194863382T=	NCBI36
NG_011605.1:g.74756T= , LRG_337:g.74756T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2598T= MANE Select	ENSP00000355324.2:p.Ser866=
ENST00000361828.7:c.2433T=	ENSP00000354429.3:p.Ser811=
ENST00000361908.8:c.2544T=	ENSP00000354681.3:p.Ser848=
ENST00000392436.7:c.2433T=	ENSP00000376231.3:p.Ser811=
ENST00000392437.6:c.2487T=	ENSP00000376232.2:p.Ser829=
ENST00000642289.1:c.2372T=
ENST00000642445.1:c.2433T=	ENSP00000495535.1:p.Ser811=
ENST00000642593.1:c.*658T=	ENSP00000494273.1:n.*658T=
ENST00000643329.1:c.2115T=	ENSP00000493673.1:p.Ser705=
ENST00000643737.1:c.*2514T=	ENSP00000494210.1:n.*2514T=
ENST00000644595.1:c.2433T=	ENSP00000494121.1:p.Ser811=
ENST00000644629.1:c.2020T=
ENST00000644841.1:c.*917T=	ENSP00000493988.1:n.*917T=
ENST00000644959.1:c.2427T=
ENST00000645553.1:c.2448T=	ENSP00000494725.1:p.Ser816=
ENST00000646085.1:c.*1911T=	ENSP00000494509.1:n.*1911T=
ENST00000646277.1:c.*1034T=	ENSP00000495289.1:n.*1034T=
ENST00000646544.1:c.1421T=
ENST00000646699.1:c.2372T=
ENST00000646793.1:c.2325T=	ENSP00000494512.1:p.Ser775=
ENST00000361150.6:c.2436T=	ENSP00000354781.2:p.Ser812=
ENST00000361510.6:c.2598T=	ENSP00000355324.2:p.Ser866=
ENST00000361715.6:c.2490T=	ENSP00000355311.2:p.Ser830=
ENST00000361828.6:c.2487T=	ENSP00000354429.2:p.Ser829=
ENST00000361908.7:c.2544T=	ENSP00000354681.3:p.Ser848=
ENST00000392438.7:c.2433T=	ENSP00000376233.3:p.Ser811=
ENST00000445863.1:c.9T=	ENSP00000398358.1:p.Ser3=
NM_015560.2:c.2433T= , LRG_337t1:c.2433T=	NP_056375.2:p.Ser811=
NM_130831.2:c.2325T=	NP_570844.1:p.Ser775=
NM_130832.2:c.2379T=	NP_570845.1:p.Ser793=
NM_130833.2:c.2436T=	NP_570846.1:p.Ser812=
NM_130834.2:c.2487T=	NP_570847.2:p.Ser829=
NM_130835.2:c.2490T=	NP_570848.1:p.Ser830=
NM_130836.2:c.2544T=	NP_570849.2:p.Ser848=
NM_130837.2:c.2598T= , LRG_337t2:c.2598T=	NP_570850.2:p.Ser866=
XM_011512863.1:c.2598T=	XP_011511165.1:p.Ser866=
XM_011512864.1:c.2544T=	XP_011511166.1:p.Ser848=
XM_011512865.1:c.2487T=	XP_011511167.1:p.Ser829=
XM_011512866.1:c.2436T=	XP_011511168.1:p.Ser812=
XM_011512867.1:c.2433T=	XP_011511169.1:p.Ser811=
XM_011512868.1:c.2325T=	XP_011511170.1:p.Ser775=
XR_924835.1:n.582+6021A=
NM_001354663.1:c.2064T=	NP_001341592.1:p.Ser688=
NM_001354664.1:c.2061T=	NP_001341593.1:p.Ser687=
XR_001740158.2:n.2852T=
XR_001740159.2:n.2687T=
XR_001741072.1:n.601-2814A=
XR_001741074.1:n.475+7909A=
XR_924835.2:n.600+6021A=
NM_001354663.2:c.2064T=	NP_001341592.1:p.Ser688=
NM_001354664.2:c.2061T=	NP_001341593.1:p.Ser687=
NM_130831.3:c.2325T=	NP_570844.1:p.Ser775=
NM_130832.3:c.2379T=	NP_570845.1:p.Ser793=
NM_130834.3:c.2487T=	NP_570847.2:p.Ser829=
NM_130836.3:c.2544T=	NP_570849.2:p.Ser848=
NM_015560.3:c.2433T=	NP_056375.2:p.Ser811=
NM_130833.3:c.2436T=	NP_570846.1:p.Ser812=
NM_130835.3:c.2490T=	NP_570848.1:p.Ser830=
NM_130837.3:c.2598T= MANE Select	NP_570850.2:p.Ser866=