Canonical Allele Identifier: CA355793262

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380725C>G (hg19) ; chr3:g.193662936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662936C>G , CM000665.2:g.193662936C>G	GRCh38
NC_000003.11:g.193380725C>G , CM000665.1:g.193380725C>G	GRCh37
NC_000003.10:g.194863419C>G	NCBI36
NG_011605.1:g.74793C>G , LRG_337:g.74793C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2635C>G MANE Select	ENSP00000355324.2:p.Arg879Gly
ENST00000361828.7:c.2470C>G	ENSP00000354429.3:p.Arg824Gly
ENST00000361908.8:c.2581C>G	ENSP00000354681.3:p.Arg861Gly
ENST00000392436.7:c.2470C>G	ENSP00000376231.3:p.Arg824Gly
ENST00000392437.6:c.2524C>G	ENSP00000376232.2:p.Arg842Gly
ENST00000642289.1:c.2409C>G
ENST00000642445.1:c.2470C>G	ENSP00000495535.1:p.Arg824Gly
ENST00000642593.1:c.*695C>G	ENSP00000494273.1:n.*695C>G
ENST00000643329.1:c.2152C>G	ENSP00000493673.1:p.Arg718Gly
ENST00000643737.1:c.*2551C>G	ENSP00000494210.1:n.*2551C>G
ENST00000644595.1:c.2470C>G	ENSP00000494121.1:p.Arg824Gly
ENST00000644629.1:c.2057C>G
ENST00000644841.1:c.*954C>G	ENSP00000493988.1:n.*954C>G
ENST00000644959.1:c.2464C>G
ENST00000645553.1:c.2485C>G	ENSP00000494725.1:p.Arg829Gly
ENST00000646085.1:c.*1948C>G	ENSP00000494509.1:n.*1948C>G
ENST00000646277.1:c.*1071C>G	ENSP00000495289.1:n.*1071C>G
ENST00000646544.1:c.1458C>G
ENST00000646699.1:c.2409C>G
ENST00000646793.1:c.2362C>G	ENSP00000494512.1:p.Arg788Gly
ENST00000361150.6:c.2473C>G	ENSP00000354781.2:p.Arg825Gly
ENST00000361510.6:c.2635C>G	ENSP00000355324.2:p.Arg879Gly
ENST00000361715.6:c.2527C>G	ENSP00000355311.2:p.Arg843Gly
ENST00000361828.6:c.2524C>G	ENSP00000354429.2:p.Arg842Gly
ENST00000361908.7:c.2581C>G	ENSP00000354681.3:p.Arg861Gly
ENST00000392438.7:c.2470C>G	ENSP00000376233.3:p.Arg824Gly
ENST00000445863.1:c.46C>G	ENSP00000398358.1:p.Arg16Gly
NM_015560.2:c.2470C>G , LRG_337t1:c.2470C>G	NP_056375.2:p.Arg824Gly
NM_130831.2:c.2362C>G	NP_570844.1:p.Arg788Gly
NM_130832.2:c.2416C>G	NP_570845.1:p.Arg806Gly
NM_130833.2:c.2473C>G	NP_570846.1:p.Arg825Gly
NM_130834.2:c.2524C>G	NP_570847.2:p.Arg842Gly
NM_130835.2:c.2527C>G	NP_570848.1:p.Arg843Gly
NM_130836.2:c.2581C>G	NP_570849.2:p.Arg861Gly
NM_130837.2:c.2635C>G , LRG_337t2:c.2635C>G	NP_570850.2:p.Arg879Gly
XM_011512863.1:c.2635C>G	XP_011511165.1:p.Arg879Gly
XM_011512864.1:c.2581C>G	XP_011511166.1:p.Arg861Gly
XM_011512865.1:c.2524C>G	XP_011511167.1:p.Arg842Gly
XM_011512866.1:c.2473C>G	XP_011511168.1:p.Arg825Gly
XM_011512867.1:c.2470C>G	XP_011511169.1:p.Arg824Gly
XM_011512868.1:c.2362C>G	XP_011511170.1:p.Arg788Gly
XR_924835.1:n.582+5984G>C
NM_001354663.1:c.2101C>G	NP_001341592.1:p.Arg701Gly
NM_001354664.1:c.2098C>G	NP_001341593.1:p.Arg700Gly
XR_001740158.2:n.2889C>G
XR_001740159.2:n.2724C>G
XR_001741072.1:n.601-2851G>C
XR_001741074.1:n.475+7872G>C
XR_924835.2:n.600+5984G>C
NM_001354663.2:c.2101C>G	NP_001341592.1:p.Arg701Gly
NM_001354664.2:c.2098C>G	NP_001341593.1:p.Arg700Gly
NM_130831.3:c.2362C>G	NP_570844.1:p.Arg788Gly
NM_130832.3:c.2416C>G	NP_570845.1:p.Arg806Gly
NM_130834.3:c.2524C>G	NP_570847.2:p.Arg842Gly
NM_130836.3:c.2581C>G	NP_570849.2:p.Arg861Gly
NM_015560.3:c.2470C>G	NP_056375.2:p.Arg824Gly
NM_130833.3:c.2473C>G	NP_570846.1:p.Arg825Gly
NM_130835.3:c.2527C>G	NP_570848.1:p.Arg843Gly
NM_130837.3:c.2635C>G MANE Select	NP_570850.2:p.Arg879Gly