Canonical Allele Identifier: CA1430233610

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667222T= , CM000665.2:g.193667222T=	GRCh38
NC_000003.11:g.193385011T= , CM000665.1:g.193385011T=	GRCh37
NC_000003.10:g.194867705T=	NCBI36
NG_011605.1:g.79079T= , LRG_337:g.79079T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2925T= MANE Select	ENSP00000355324.2:p.Asp975=
ENST00000361828.7:c.2760T=	ENSP00000354429.3:p.Asp920=
ENST00000361908.8:c.2871T=	ENSP00000354681.3:p.Asp957=
ENST00000392436.7:c.2760T=	ENSP00000376231.3:p.Asp920=
ENST00000392437.6:c.2814T=	ENSP00000376232.2:p.Asp938=
ENST00000642289.1:c.2699T=
ENST00000642445.1:c.2760T=	ENSP00000495535.1:p.Asp920=
ENST00000642593.1:c.*985T=	ENSP00000494273.1:n.*985T=
ENST00000643329.1:c.2442T=	ENSP00000493673.1:p.Asp814=
ENST00000643737.1:c.*2841T=	ENSP00000494210.1:n.*2841T=
ENST00000644595.1:c.2760T=	ENSP00000494121.1:p.Asp920=
ENST00000644629.1:c.2347T=
ENST00000644841.1:c.*1244T=	ENSP00000493988.1:n.*1244T=
ENST00000644959.1:c.2754T=
ENST00000645553.1:c.2775T=	ENSP00000494725.1:p.Asp925=
ENST00000646085.1:c.*2238T=	ENSP00000494509.1:n.*2238T=
ENST00000646277.1:c.*1361T=	ENSP00000495289.1:n.*1361T=
ENST00000646544.1:c.1748T=
ENST00000646699.1:c.2699T=
ENST00000646793.1:c.2652T=	ENSP00000494512.1:p.Asp884=
ENST00000361150.6:c.2763T=	ENSP00000354781.2:p.Asp921=
ENST00000361510.6:c.2925T=	ENSP00000355324.2:p.Asp975=
ENST00000361715.6:c.2817T=	ENSP00000355311.2:p.Asp939=
ENST00000361828.6:c.2814T=	ENSP00000354429.2:p.Asp938=
ENST00000361908.7:c.2871T=	ENSP00000354681.3:p.Asp957=
ENST00000392438.7:c.2760T=	ENSP00000376233.3:p.Asp920=
ENST00000429164.1:c.47T=
ENST00000445863.1:c.336T=	ENSP00000398358.1:p.Asp112=
NM_015560.2:c.2760T= , LRG_337t1:c.2760T=	NP_056375.2:p.Asp920=
NM_130831.2:c.2652T=	NP_570844.1:p.Asp884=
NM_130832.2:c.2706T=	NP_570845.1:p.Asp902=
NM_130833.2:c.2763T=	NP_570846.1:p.Asp921=
NM_130834.2:c.2814T=	NP_570847.2:p.Asp938=
NM_130835.2:c.2817T=	NP_570848.1:p.Asp939=
NM_130836.2:c.2871T=	NP_570849.2:p.Asp957=
NM_130837.2:c.2925T= , LRG_337t2:c.2925T=	NP_570850.2:p.Asp975=
XM_011512863.1:c.2925T=	XP_011511165.1:p.Asp975=
XM_011512864.1:c.2871T=	XP_011511166.1:p.Asp957=
XM_011512865.1:c.2814T=	XP_011511167.1:p.Asp938=
XM_011512866.1:c.2763T=	XP_011511168.1:p.Asp921=
XM_011512867.1:c.2760T=	XP_011511169.1:p.Asp920=
XM_011512868.1:c.2652T=	XP_011511170.1:p.Asp884=
XR_924835.1:n.582+1698A=
NM_001354663.1:c.2391T=	NP_001341592.1:p.Asp797=
NM_001354664.1:c.2388T=	NP_001341593.1:p.Asp796=
XR_001740158.2:n.3179T=
XR_001740159.2:n.3014T=
XR_001741072.1:n.600+1698A=
XR_001741074.1:n.475+3586A=
XR_924835.2:n.600+1698A=
NM_001354663.2:c.2391T=	NP_001341592.1:p.Asp797=
NM_001354664.2:c.2388T=	NP_001341593.1:p.Asp796=
NM_130831.3:c.2652T=	NP_570844.1:p.Asp884=
NM_130832.3:c.2706T=	NP_570845.1:p.Asp902=
NM_130834.3:c.2814T=	NP_570847.2:p.Asp938=
NM_130836.3:c.2871T=	NP_570849.2:p.Asp957=
NM_015560.3:c.2760T=	NP_056375.2:p.Asp920=
NM_130833.3:c.2763T=	NP_570846.1:p.Asp921=
NM_130835.3:c.2817T=	NP_570848.1:p.Asp939=
NM_130837.3:c.2925T= MANE Select	NP_570850.2:p.Asp975=