Canonical Allele Identifier: CA355793249

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380717T>G (hg19) ; chr3:g.193662928T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662928T>G , CM000665.2:g.193662928T>G	GRCh38
NC_000003.11:g.193380717T>G , CM000665.1:g.193380717T>G	GRCh37
NC_000003.10:g.194863411T>G	NCBI36
NG_011605.1:g.74785T>G , LRG_337:g.74785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2627T>G MANE Select	ENSP00000355324.2:p.Leu876Arg
ENST00000361828.7:c.2462T>G	ENSP00000354429.3:p.Leu821Arg
ENST00000361908.8:c.2573T>G	ENSP00000354681.3:p.Leu858Arg
ENST00000392436.7:c.2462T>G	ENSP00000376231.3:p.Leu821Arg
ENST00000392437.6:c.2516T>G	ENSP00000376232.2:p.Leu839Arg
ENST00000642289.1:c.2401T>G
ENST00000642445.1:c.2462T>G	ENSP00000495535.1:p.Leu821Arg
ENST00000642593.1:c.*687T>G	ENSP00000494273.1:n.*687T>G
ENST00000643329.1:c.2144T>G	ENSP00000493673.1:p.Leu715Arg
ENST00000643737.1:c.*2543T>G	ENSP00000494210.1:n.*2543T>G
ENST00000644595.1:c.2462T>G	ENSP00000494121.1:p.Leu821Arg
ENST00000644629.1:c.2049T>G
ENST00000644841.1:c.*946T>G	ENSP00000493988.1:n.*946T>G
ENST00000644959.1:c.2456T>G
ENST00000645553.1:c.2477T>G	ENSP00000494725.1:p.Leu826Arg
ENST00000646085.1:c.*1940T>G	ENSP00000494509.1:n.*1940T>G
ENST00000646277.1:c.*1063T>G	ENSP00000495289.1:n.*1063T>G
ENST00000646544.1:c.1450T>G
ENST00000646699.1:c.2401T>G
ENST00000646793.1:c.2354T>G	ENSP00000494512.1:p.Leu785Arg
ENST00000361150.6:c.2465T>G	ENSP00000354781.2:p.Leu822Arg
ENST00000361510.6:c.2627T>G	ENSP00000355324.2:p.Leu876Arg
ENST00000361715.6:c.2519T>G	ENSP00000355311.2:p.Leu840Arg
ENST00000361828.6:c.2516T>G	ENSP00000354429.2:p.Leu839Arg
ENST00000361908.7:c.2573T>G	ENSP00000354681.3:p.Leu858Arg
ENST00000392438.7:c.2462T>G	ENSP00000376233.3:p.Leu821Arg
ENST00000445863.1:c.38T>G	ENSP00000398358.1:p.Leu13Arg
NM_015560.2:c.2462T>G , LRG_337t1:c.2462T>G	NP_056375.2:p.Leu821Arg
NM_130831.2:c.2354T>G	NP_570844.1:p.Leu785Arg
NM_130832.2:c.2408T>G	NP_570845.1:p.Leu803Arg
NM_130833.2:c.2465T>G	NP_570846.1:p.Leu822Arg
NM_130834.2:c.2516T>G	NP_570847.2:p.Leu839Arg
NM_130835.2:c.2519T>G	NP_570848.1:p.Leu840Arg
NM_130836.2:c.2573T>G	NP_570849.2:p.Leu858Arg
NM_130837.2:c.2627T>G , LRG_337t2:c.2627T>G	NP_570850.2:p.Leu876Arg
XM_011512863.1:c.2627T>G	XP_011511165.1:p.Leu876Arg
XM_011512864.1:c.2573T>G	XP_011511166.1:p.Leu858Arg
XM_011512865.1:c.2516T>G	XP_011511167.1:p.Leu839Arg
XM_011512866.1:c.2465T>G	XP_011511168.1:p.Leu822Arg
XM_011512867.1:c.2462T>G	XP_011511169.1:p.Leu821Arg
XM_011512868.1:c.2354T>G	XP_011511170.1:p.Leu785Arg
XR_924835.1:n.582+5992A>C
NM_001354663.1:c.2093T>G	NP_001341592.1:p.Leu698Arg
NM_001354664.1:c.2090T>G	NP_001341593.1:p.Leu697Arg
XR_001740158.2:n.2881T>G
XR_001740159.2:n.2716T>G
XR_001741072.1:n.601-2843A>C
XR_001741074.1:n.475+7880A>C
XR_924835.2:n.600+5992A>C
NM_001354663.2:c.2093T>G	NP_001341592.1:p.Leu698Arg
NM_001354664.2:c.2090T>G	NP_001341593.1:p.Leu697Arg
NM_130831.3:c.2354T>G	NP_570844.1:p.Leu785Arg
NM_130832.3:c.2408T>G	NP_570845.1:p.Leu803Arg
NM_130834.3:c.2516T>G	NP_570847.2:p.Leu839Arg
NM_130836.3:c.2573T>G	NP_570849.2:p.Leu858Arg
NM_015560.3:c.2462T>G	NP_056375.2:p.Leu821Arg
NM_130833.3:c.2465T>G	NP_570846.1:p.Leu822Arg
NM_130835.3:c.2519T>G	NP_570848.1:p.Leu840Arg
NM_130837.3:c.2627T>G MANE Select	NP_570850.2:p.Leu876Arg