Canonical Allele Identifier: CA1430270696

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662929T= , CM000665.2:g.193662929T=	GRCh38
NC_000003.11:g.193380718T= , CM000665.1:g.193380718T=	GRCh37
NC_000003.10:g.194863412T=	NCBI36
NG_011605.1:g.74786T= , LRG_337:g.74786T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2628T= MANE Select	ENSP00000355324.2:p.Leu876=
ENST00000361828.7:c.2463T=	ENSP00000354429.3:p.Leu821=
ENST00000361908.8:c.2574T=	ENSP00000354681.3:p.Leu858=
ENST00000392436.7:c.2463T=	ENSP00000376231.3:p.Leu821=
ENST00000392437.6:c.2517T=	ENSP00000376232.2:p.Leu839=
ENST00000642289.1:c.2402T=
ENST00000642445.1:c.2463T=	ENSP00000495535.1:p.Leu821=
ENST00000642593.1:c.*688T=	ENSP00000494273.1:n.*688T=
ENST00000643329.1:c.2145T=	ENSP00000493673.1:p.Leu715=
ENST00000643737.1:c.*2544T=	ENSP00000494210.1:n.*2544T=
ENST00000644595.1:c.2463T=	ENSP00000494121.1:p.Leu821=
ENST00000644629.1:c.2050T=
ENST00000644841.1:c.*947T=	ENSP00000493988.1:n.*947T=
ENST00000644959.1:c.2457T=
ENST00000645553.1:c.2478T=	ENSP00000494725.1:p.Leu826=
ENST00000646085.1:c.*1941T=	ENSP00000494509.1:n.*1941T=
ENST00000646277.1:c.*1064T=	ENSP00000495289.1:n.*1064T=
ENST00000646544.1:c.1451T=
ENST00000646699.1:c.2402T=
ENST00000646793.1:c.2355T=	ENSP00000494512.1:p.Leu785=
ENST00000361150.6:c.2466T=	ENSP00000354781.2:p.Leu822=
ENST00000361510.6:c.2628T=	ENSP00000355324.2:p.Leu876=
ENST00000361715.6:c.2520T=	ENSP00000355311.2:p.Leu840=
ENST00000361828.6:c.2517T=	ENSP00000354429.2:p.Leu839=
ENST00000361908.7:c.2574T=	ENSP00000354681.3:p.Leu858=
ENST00000392438.7:c.2463T=	ENSP00000376233.3:p.Leu821=
ENST00000445863.1:c.39T=	ENSP00000398358.1:p.Leu13=
NM_015560.2:c.2463T= , LRG_337t1:c.2463T=	NP_056375.2:p.Leu821=
NM_130831.2:c.2355T=	NP_570844.1:p.Leu785=
NM_130832.2:c.2409T=	NP_570845.1:p.Leu803=
NM_130833.2:c.2466T=	NP_570846.1:p.Leu822=
NM_130834.2:c.2517T=	NP_570847.2:p.Leu839=
NM_130835.2:c.2520T=	NP_570848.1:p.Leu840=
NM_130836.2:c.2574T=	NP_570849.2:p.Leu858=
NM_130837.2:c.2628T= , LRG_337t2:c.2628T=	NP_570850.2:p.Leu876=
XM_011512863.1:c.2628T=	XP_011511165.1:p.Leu876=
XM_011512864.1:c.2574T=	XP_011511166.1:p.Leu858=
XM_011512865.1:c.2517T=	XP_011511167.1:p.Leu839=
XM_011512866.1:c.2466T=	XP_011511168.1:p.Leu822=
XM_011512867.1:c.2463T=	XP_011511169.1:p.Leu821=
XM_011512868.1:c.2355T=	XP_011511170.1:p.Leu785=
XR_924835.1:n.582+5991A=
NM_001354663.1:c.2094T=	NP_001341592.1:p.Leu698=
NM_001354664.1:c.2091T=	NP_001341593.1:p.Leu697=
XR_001740158.2:n.2882T=
XR_001740159.2:n.2717T=
XR_001741072.1:n.601-2844A=
XR_001741074.1:n.475+7879A=
XR_924835.2:n.600+5991A=
NM_001354663.2:c.2094T=	NP_001341592.1:p.Leu698=
NM_001354664.2:c.2091T=	NP_001341593.1:p.Leu697=
NM_130831.3:c.2355T=	NP_570844.1:p.Leu785=
NM_130832.3:c.2409T=	NP_570845.1:p.Leu803=
NM_130834.3:c.2517T=	NP_570847.2:p.Leu839=
NM_130836.3:c.2574T=	NP_570849.2:p.Leu858=
NM_015560.3:c.2463T=	NP_056375.2:p.Leu821=
NM_130833.3:c.2466T=	NP_570846.1:p.Leu822=
NM_130835.3:c.2520T=	NP_570848.1:p.Leu840=
NM_130837.3:c.2628T= MANE Select	NP_570850.2:p.Leu876=