Canonical Allele Identifier: CA2759706

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662918C>T , CM000665.2:g.193662918C>T	GRCh38
NC_000003.11:g.193380707C>T , CM000665.1:g.193380707C>T	GRCh37
NC_000003.10:g.194863401C>T	NCBI36
NG_011605.1:g.74775C>T , LRG_337:g.74775C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_130837.3:c.2617C>T MANE Select	NP_570850.2:p.Arg873Trp
ENST00000361510.8:c.2617C>T MANE Select	ENSP00000355324.2:p.Arg873Trp
NM_001354663.1:c.2083C>T	NP_001341592.1:p.Arg695Trp
NM_001354663.2:c.2083C>T	NP_001341592.1:p.Arg695Trp
NM_001354664.1:c.2080C>T	NP_001341593.1:p.Arg694Trp
NM_001354664.2:c.2080C>T	NP_001341593.1:p.Arg694Trp
NM_015560.2:c.2452C>T , LRG_337t1:c.2452C>T	NP_056375.2:p.Arg818Trp
NM_015560.3:c.2452C>T	NP_056375.2:p.Arg818Trp
NM_130831.2:c.2344C>T	NP_570844.1:p.Arg782Trp
NM_130831.3:c.2344C>T	NP_570844.1:p.Arg782Trp
NM_130832.2:c.2398C>T	NP_570845.1:p.Arg800Trp
NM_130832.3:c.2398C>T	NP_570845.1:p.Arg800Trp
NM_130833.2:c.2455C>T	NP_570846.1:p.Arg819Trp
NM_130833.3:c.2455C>T	NP_570846.1:p.Arg819Trp
NM_130834.2:c.2506C>T	NP_570847.2:p.Arg836Trp
NM_130834.3:c.2506C>T	NP_570847.2:p.Arg836Trp
NM_130835.2:c.2509C>T	NP_570848.1:p.Arg837Trp
NM_130835.3:c.2509C>T	NP_570848.1:p.Arg837Trp
NM_130836.2:c.2563C>T	NP_570849.2:p.Arg855Trp
NM_130836.3:c.2563C>T	NP_570849.2:p.Arg855Trp
NM_130837.2:c.2617C>T , LRG_337t2:c.2617C>T	NP_570850.2:p.Arg873Trp
ENST00000361150.6:c.2455C>T	ENSP00000354781.2:p.Arg819Trp
ENST00000361510.6:c.2617C>T	ENSP00000355324.2:p.Arg873Trp
ENST00000361715.6:c.2509C>T	ENSP00000355311.2:p.Arg837Trp
ENST00000361828.6:c.2506C>T	ENSP00000354429.2:p.Arg836Trp
ENST00000361828.7:c.2452C>T	ENSP00000354429.3:p.Arg818Trp
ENST00000361908.7:c.2563C>T	ENSP00000354681.3:p.Arg855Trp
ENST00000361908.8:c.2563C>T	ENSP00000354681.3:p.Arg855Trp
ENST00000392436.7:c.2452C>T	ENSP00000376231.3:p.Arg818Trp
ENST00000392437.6:c.2506C>T	ENSP00000376232.2:p.Arg836Trp
ENST00000392438.7:c.2452C>T	ENSP00000376233.3:p.Arg818Trp
ENST00000445863.1:c.28C>T	ENSP00000398358.1:p.Arg10Trp
ENST00000642289.1:c.2391C>T
ENST00000642445.1:c.2452C>T	ENSP00000495535.1:p.Arg818Trp
ENST00000642593.1:c.*677C>T	ENSP00000494273.1:n.*677C>T
ENST00000643329.1:c.2134C>T	ENSP00000493673.1:p.Arg712Trp
ENST00000643737.1:c.*2533C>T	ENSP00000494210.1:n.*2533C>T
ENST00000644595.1:c.2452C>T	ENSP00000494121.1:p.Arg818Trp
ENST00000644629.1:c.2039C>T
ENST00000644841.1:c.*936C>T	ENSP00000493988.1:n.*936C>T
ENST00000644959.1:c.2446C>T
ENST00000645553.1:c.2467C>T	ENSP00000494725.1:p.Arg823Trp
ENST00000646085.1:c.*1930C>T	ENSP00000494509.1:n.*1930C>T
ENST00000646277.1:c.*1053C>T	ENSP00000495289.1:n.*1053C>T
ENST00000646544.1:c.1440C>T
ENST00000646699.1:c.2391C>T
ENST00000646793.1:c.2344C>T	ENSP00000494512.1:p.Arg782Trp
XM_011512863.1:c.2617C>T	XP_011511165.1:p.Arg873Trp
XM_011512864.1:c.2563C>T	XP_011511166.1:p.Arg855Trp
XM_011512865.1:c.2506C>T	XP_011511167.1:p.Arg836Trp
XM_011512866.1:c.2455C>T	XP_011511168.1:p.Arg819Trp
XM_011512867.1:c.2452C>T	XP_011511169.1:p.Arg818Trp
XM_011512868.1:c.2344C>T	XP_011511170.1:p.Arg782Trp
XR_001740158.2:n.2871C>T
XR_001740159.2:n.2706C>T
XR_001741072.1:n.601-2833G>A
XR_001741074.1:n.475+7890G>A
XR_924835.1:n.582+6002G>A
XR_924835.2:n.600+6002G>A