Canonical Allele Identifier: CA2586973326

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647118dup , CM000665.2:g.193647118dup	GRCh38
NC_000003.11:g.193364907dup , CM000665.1:g.193364907dup	GRCh37
NC_000003.10:g.194847601dup	NCBI36
NG_011605.1:g.58975dup , LRG_337:g.58975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1808dup MANE Select	ENSP00000355324.2:p.Ser604IlefsTer13
ENST00000361828.7:c.1643dup	ENSP00000354429.3:p.Ser549IlefsTer13
ENST00000361908.8:c.1754dup	ENSP00000354681.3:p.Ser586IlefsTer13
ENST00000392436.7:c.1643dup	ENSP00000376231.3:p.Ser549IlefsTer13
ENST00000392437.6:c.1697dup	ENSP00000376232.2:p.Ser567IlefsTer13
ENST00000642289.1:c.1582dup
ENST00000642445.1:c.1643dup	ENSP00000495535.1:p.Ser549IlefsTer13
ENST00000642593.1:c.1643dup	ENSP00000494273.1:p.Ser549IlefsTer13
ENST00000643329.1:c.1325dup	ENSP00000493673.1:p.Ser443IlefsTer13
ENST00000643737.1:c.*1724dup	ENSP00000494210.1:n.*1724dup
ENST00000644595.1:c.1643dup	ENSP00000494121.1:p.Ser549IlefsTer13
ENST00000644629.1:c.1230dup
ENST00000644841.1:c.*127dup	ENSP00000493988.1:n.*127dup
ENST00000644959.1:c.1612dup
ENST00000645553.1:c.1658dup	ENSP00000494725.1:p.Ser554IlefsTer13
ENST00000646085.1:c.*1121dup	ENSP00000494509.1:n.*1121dup
ENST00000646277.1:c.*244dup	ENSP00000495289.1:n.*244dup
ENST00000646544.1:c.631dup
ENST00000646699.1:c.1582dup
ENST00000646793.1:c.1535dup	ENSP00000494512.1:p.Ser513IlefsTer13
ENST00000361150.6:c.1646dup	ENSP00000354781.2:p.Ser550IlefsTer13
ENST00000361510.6:c.1808dup	ENSP00000355324.2:p.Ser604IlefsTer13
ENST00000361715.6:c.1700dup	ENSP00000355311.2:p.Ser568IlefsTer13
ENST00000361828.6:c.1697dup	ENSP00000354429.2:p.Ser567IlefsTer13
ENST00000361908.7:c.1754dup	ENSP00000354681.3:p.Ser586IlefsTer13
ENST00000392438.7:c.1643dup	ENSP00000376233.3:p.Ser549IlefsTer13
ENST00000483516.1:n.141dup
NM_015560.2:c.1643dup , LRG_337t1:c.1643dup	NP_056375.2:p.Ser549IlefsTer13
NM_130831.2:c.1535dup	NP_570844.1:p.Ser513IlefsTer13
NM_130832.2:c.1589dup	NP_570845.1:p.Ser531IlefsTer13
NM_130833.2:c.1646dup	NP_570846.1:p.Ser550IlefsTer13
NM_130834.2:c.1697dup	NP_570847.2:p.Ser567IlefsTer13
NM_130835.2:c.1700dup	NP_570848.1:p.Ser568IlefsTer13
NM_130836.2:c.1754dup	NP_570849.2:p.Ser586IlefsTer13
NM_130837.2:c.1808dup , LRG_337t2:c.1808dup	NP_570850.2:p.Ser604IlefsTer13
XM_011512863.1:c.1808dup	XP_011511165.1:p.Ser604IlefsTer13
XM_011512864.1:c.1754dup	XP_011511166.1:p.Ser586IlefsTer13
XM_011512865.1:c.1697dup	XP_011511167.1:p.Ser567IlefsTer13
XM_011512866.1:c.1646dup	XP_011511168.1:p.Ser550IlefsTer13
XM_011512867.1:c.1643dup	XP_011511169.1:p.Ser549IlefsTer13
XM_011512868.1:c.1535dup	XP_011511170.1:p.Ser513IlefsTer13
XM_011512869.1:c.1808dup	XP_011511171.1:p.Ser604IlefsTer13
NM_001354663.1:c.1274dup	NP_001341592.1:p.Ser426IlefsTer13
NM_001354664.1:c.1271dup	NP_001341593.1:p.Ser425IlefsTer13
XR_001740158.2:n.2037dup
XR_001740159.2:n.1872dup
NM_001354663.2:c.1274dup	NP_001341592.1:p.Ser426IlefsTer13
NM_001354664.2:c.1271dup	NP_001341593.1:p.Ser425IlefsTer13
NM_130831.3:c.1535dup	NP_570844.1:p.Ser513IlefsTer13
NM_130832.3:c.1589dup	NP_570845.1:p.Ser531IlefsTer13
NM_130834.3:c.1697dup	NP_570847.2:p.Ser567IlefsTer13
NM_130836.3:c.1754dup	NP_570849.2:p.Ser586IlefsTer13
NM_015560.3:c.1643dup	NP_056375.2:p.Ser549IlefsTer13
NM_130833.3:c.1646dup	NP_570846.1:p.Ser550IlefsTer13
NM_130835.3:c.1700dup	NP_570848.1:p.Ser568IlefsTer13
NM_130837.3:c.1808dup MANE Select	NP_570850.2:p.Ser604IlefsTer13