Canonical Allele Identifier: CA1430270680

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662911C= , CM000665.2:g.193662911C=	GRCh38
NC_000003.11:g.193380700C= , CM000665.1:g.193380700C=	GRCh37
NC_000003.10:g.194863394C=	NCBI36
NG_011605.1:g.74768C= , LRG_337:g.74768C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2610C= MANE Select	ENSP00000355324.2:p.Thr870=
ENST00000361828.7:c.2445C=	ENSP00000354429.3:p.Thr815=
ENST00000361908.8:c.2556C=	ENSP00000354681.3:p.Thr852=
ENST00000392436.7:c.2445C=	ENSP00000376231.3:p.Thr815=
ENST00000392437.6:c.2499C=	ENSP00000376232.2:p.Thr833=
ENST00000642289.1:c.2384C=
ENST00000642445.1:c.2445C=	ENSP00000495535.1:p.Thr815=
ENST00000642593.1:c.*670C=	ENSP00000494273.1:n.*670C=
ENST00000643329.1:c.2127C=	ENSP00000493673.1:p.Thr709=
ENST00000643737.1:c.*2526C=	ENSP00000494210.1:n.*2526C=
ENST00000644595.1:c.2445C=	ENSP00000494121.1:p.Thr815=
ENST00000644629.1:c.2032C=
ENST00000644841.1:c.*929C=	ENSP00000493988.1:n.*929C=
ENST00000644959.1:c.2439C=
ENST00000645553.1:c.2460C=	ENSP00000494725.1:p.Thr820=
ENST00000646085.1:c.*1923C=	ENSP00000494509.1:n.*1923C=
ENST00000646277.1:c.*1046C=	ENSP00000495289.1:n.*1046C=
ENST00000646544.1:c.1433C=
ENST00000646699.1:c.2384C=
ENST00000646793.1:c.2337C=	ENSP00000494512.1:p.Thr779=
ENST00000361150.6:c.2448C=	ENSP00000354781.2:p.Thr816=
ENST00000361510.6:c.2610C=	ENSP00000355324.2:p.Thr870=
ENST00000361715.6:c.2502C=	ENSP00000355311.2:p.Thr834=
ENST00000361828.6:c.2499C=	ENSP00000354429.2:p.Thr833=
ENST00000361908.7:c.2556C=	ENSP00000354681.3:p.Thr852=
ENST00000392438.7:c.2445C=	ENSP00000376233.3:p.Thr815=
ENST00000445863.1:c.21C=	ENSP00000398358.1:p.Thr7=
NM_015560.2:c.2445C= , LRG_337t1:c.2445C=	NP_056375.2:p.Thr815=
NM_130831.2:c.2337C=	NP_570844.1:p.Thr779=
NM_130832.2:c.2391C=	NP_570845.1:p.Thr797=
NM_130833.2:c.2448C=	NP_570846.1:p.Thr816=
NM_130834.2:c.2499C=	NP_570847.2:p.Thr833=
NM_130835.2:c.2502C=	NP_570848.1:p.Thr834=
NM_130836.2:c.2556C=	NP_570849.2:p.Thr852=
NM_130837.2:c.2610C= , LRG_337t2:c.2610C=	NP_570850.2:p.Thr870=
XM_011512863.1:c.2610C=	XP_011511165.1:p.Thr870=
XM_011512864.1:c.2556C=	XP_011511166.1:p.Thr852=
XM_011512865.1:c.2499C=	XP_011511167.1:p.Thr833=
XM_011512866.1:c.2448C=	XP_011511168.1:p.Thr816=
XM_011512867.1:c.2445C=	XP_011511169.1:p.Thr815=
XM_011512868.1:c.2337C=	XP_011511170.1:p.Thr779=
XR_924835.1:n.582+6009G=
NM_001354663.1:c.2076C=	NP_001341592.1:p.Thr692=
NM_001354664.1:c.2073C=	NP_001341593.1:p.Thr691=
XR_001740158.2:n.2864C=
XR_001740159.2:n.2699C=
XR_001741072.1:n.601-2826G=
XR_001741074.1:n.475+7897G=
XR_924835.2:n.600+6009G=
NM_001354663.2:c.2076C=	NP_001341592.1:p.Thr692=
NM_001354664.2:c.2073C=	NP_001341593.1:p.Thr691=
NM_130831.3:c.2337C=	NP_570844.1:p.Thr779=
NM_130832.3:c.2391C=	NP_570845.1:p.Thr797=
NM_130834.3:c.2499C=	NP_570847.2:p.Thr833=
NM_130836.3:c.2556C=	NP_570849.2:p.Thr852=
NM_015560.3:c.2445C=	NP_056375.2:p.Thr815=
NM_130833.3:c.2448C=	NP_570846.1:p.Thr816=
NM_130835.3:c.2502C=	NP_570848.1:p.Thr834=
NM_130837.3:c.2610C= MANE Select	NP_570850.2:p.Thr870=