Canonical Allele Identifier: CA1430233541

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667199G= , CM000665.2:g.193667199G=	GRCh38
NC_000003.11:g.193384988G= , CM000665.1:g.193384988G=	GRCh37
NC_000003.10:g.194867682G=	NCBI36
NG_011605.1:g.79056G= , LRG_337:g.79056G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2902G= MANE Select	ENSP00000355324.2:p.Val968=
ENST00000361828.7:c.2737G=	ENSP00000354429.3:p.Val913=
ENST00000361908.8:c.2848G=	ENSP00000354681.3:p.Val950=
ENST00000392436.7:c.2737G=	ENSP00000376231.3:p.Val913=
ENST00000392437.6:c.2791G=	ENSP00000376232.2:p.Val931=
ENST00000642289.1:c.2676G=
ENST00000642445.1:c.2737G=	ENSP00000495535.1:p.Val913=
ENST00000642593.1:c.*962G=	ENSP00000494273.1:n.*962G=
ENST00000643329.1:c.2419G=	ENSP00000493673.1:p.Val807=
ENST00000643737.1:c.*2818G=	ENSP00000494210.1:n.*2818G=
ENST00000644595.1:c.2737G=	ENSP00000494121.1:p.Val913=
ENST00000644629.1:c.2324G=
ENST00000644841.1:c.*1221G=	ENSP00000493988.1:n.*1221G=
ENST00000644959.1:c.2731G=
ENST00000645553.1:c.2752G=	ENSP00000494725.1:p.Val918=
ENST00000646085.1:c.*2215G=	ENSP00000494509.1:n.*2215G=
ENST00000646277.1:c.*1338G=	ENSP00000495289.1:n.*1338G=
ENST00000646544.1:c.1725G=
ENST00000646699.1:c.2676G=
ENST00000646793.1:c.2629G=	ENSP00000494512.1:p.Val877=
ENST00000361150.6:c.2740G=	ENSP00000354781.2:p.Val914=
ENST00000361510.6:c.2902G=	ENSP00000355324.2:p.Val968=
ENST00000361715.6:c.2794G=	ENSP00000355311.2:p.Val932=
ENST00000361828.6:c.2791G=	ENSP00000354429.2:p.Val931=
ENST00000361908.7:c.2848G=	ENSP00000354681.3:p.Val950=
ENST00000392438.7:c.2737G=	ENSP00000376233.3:p.Val913=
ENST00000429164.1:c.24G=
ENST00000445863.1:c.313G=	ENSP00000398358.1:p.Val105=
NM_015560.2:c.2737G= , LRG_337t1:c.2737G=	NP_056375.2:p.Val913=
NM_130831.2:c.2629G=	NP_570844.1:p.Val877=
NM_130832.2:c.2683G=	NP_570845.1:p.Val895=
NM_130833.2:c.2740G=	NP_570846.1:p.Val914=
NM_130834.2:c.2791G=	NP_570847.2:p.Val931=
NM_130835.2:c.2794G=	NP_570848.1:p.Val932=
NM_130836.2:c.2848G=	NP_570849.2:p.Val950=
NM_130837.2:c.2902G= , LRG_337t2:c.2902G=	NP_570850.2:p.Val968=
XM_011512863.1:c.2902G=	XP_011511165.1:p.Val968=
XM_011512864.1:c.2848G=	XP_011511166.1:p.Val950=
XM_011512865.1:c.2791G=	XP_011511167.1:p.Val931=
XM_011512866.1:c.2740G=	XP_011511168.1:p.Val914=
XM_011512867.1:c.2737G=	XP_011511169.1:p.Val913=
XM_011512868.1:c.2629G=	XP_011511170.1:p.Val877=
XR_924835.1:n.582+1721C=
NM_001354663.1:c.2368G=	NP_001341592.1:p.Val790=
NM_001354664.1:c.2365G=	NP_001341593.1:p.Val789=
XR_001740158.2:n.3156G=
XR_001740159.2:n.2991G=
XR_001741072.1:n.600+1721C=
XR_001741074.1:n.475+3609C=
XR_924835.2:n.600+1721C=
NM_001354663.2:c.2368G=	NP_001341592.1:p.Val790=
NM_001354664.2:c.2365G=	NP_001341593.1:p.Val789=
NM_130831.3:c.2629G=	NP_570844.1:p.Val877=
NM_130832.3:c.2683G=	NP_570845.1:p.Val895=
NM_130834.3:c.2791G=	NP_570847.2:p.Val931=
NM_130836.3:c.2848G=	NP_570849.2:p.Val950=
NM_015560.3:c.2737G=	NP_056375.2:p.Val913=
NM_130833.3:c.2740G=	NP_570846.1:p.Val914=
NM_130835.3:c.2794G=	NP_570848.1:p.Val932=
NM_130837.3:c.2902G= MANE Select	NP_570850.2:p.Val968=