Canonical Allele Identifier: CA923726109

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643373dup , CM000665.2:g.193643373dup	GRCh38
NC_000003.11:g.193361162dup , CM000665.1:g.193361162dup	GRCh37
NC_000003.10:g.194843856dup	NCBI36
NG_011605.1:g.55230dup , LRG_337:g.55230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1306dup MANE Select	ENSP00000355324.2:p.Thr436AsnfsTer18
ENST00000361828.7:c.1141dup	ENSP00000354429.3:p.Thr381AsnfsTer18
ENST00000361908.8:c.1252dup	ENSP00000354681.3:p.Thr418AsnfsTer18
ENST00000392436.7:c.1141dup	ENSP00000376231.3:p.Thr381AsnfsTer18
ENST00000392437.6:c.1195dup	ENSP00000376232.2:p.Thr399AsnfsTer18
ENST00000642289.1:c.1080dup
ENST00000642445.1:c.1141dup	ENSP00000495535.1:p.Thr381AsnfsTer18
ENST00000642593.1:c.1141dup	ENSP00000494273.1:p.Thr381AsnfsTer18
ENST00000643329.1:c.823dup	ENSP00000493673.1:p.Thr275AsnfsTer18
ENST00000643737.1:c.*1222dup	ENSP00000494210.1:n.*1222dup
ENST00000644595.1:c.1141dup	ENSP00000494121.1:p.Thr381AsnfsTer18
ENST00000644629.1:c.801dup
ENST00000644841.1:c.769dup	ENSP00000493988.1:p.Thr257AsnfsTer18
ENST00000644959.1:c.1110dup
ENST00000645553.1:c.1156dup	ENSP00000494725.1:p.Thr386AsnfsTer18
ENST00000646085.1:c.*619dup	ENSP00000494509.1:n.*619dup
ENST00000646277.1:c.1306dup	ENSP00000495289.1:p.Thr436AsnfsTer18
ENST00000646544.1:c.129dup
ENST00000646699.1:c.1080dup
ENST00000646793.1:c.1033dup	ENSP00000494512.1:p.Thr345AsnfsTer18
ENST00000361150.6:c.1144dup	ENSP00000354781.2:p.Thr382AsnfsTer18
ENST00000361510.6:c.1306dup	ENSP00000355324.2:p.Thr436AsnfsTer18
ENST00000361715.6:c.1198dup	ENSP00000355311.2:p.Thr400AsnfsTer18
ENST00000361828.6:c.1195dup	ENSP00000354429.2:p.Thr399AsnfsTer18
ENST00000361908.7:c.1252dup	ENSP00000354681.3:p.Thr418AsnfsTer18
ENST00000392438.7:c.1141dup	ENSP00000376233.3:p.Thr381AsnfsTer18
ENST00000475899.1:n.337dup
NM_015560.2:c.1141dup , LRG_337t1:c.1141dup	NP_056375.2:p.Thr381AsnfsTer18
NM_130831.2:c.1033dup	NP_570844.1:p.Thr345AsnfsTer18
NM_130832.2:c.1087dup	NP_570845.1:p.Thr363AsnfsTer18
NM_130833.2:c.1144dup	NP_570846.1:p.Thr382AsnfsTer18
NM_130834.2:c.1195dup	NP_570847.2:p.Thr399AsnfsTer18
NM_130835.2:c.1198dup	NP_570848.1:p.Thr400AsnfsTer18
NM_130836.2:c.1252dup	NP_570849.2:p.Thr418AsnfsTer18
NM_130837.2:c.1306dup , LRG_337t2:c.1306dup	NP_570850.2:p.Thr436AsnfsTer18
XM_011512863.1:c.1306dup	XP_011511165.1:p.Thr436AsnfsTer18
XM_011512864.1:c.1252dup	XP_011511166.1:p.Thr418AsnfsTer18
XM_011512865.1:c.1195dup	XP_011511167.1:p.Thr399AsnfsTer18
XM_011512866.1:c.1144dup	XP_011511168.1:p.Thr382AsnfsTer18
XM_011512867.1:c.1141dup	XP_011511169.1:p.Thr381AsnfsTer18
XM_011512868.1:c.1033dup	XP_011511170.1:p.Thr345AsnfsTer18
XM_011512869.1:c.1306dup	XP_011511171.1:p.Thr436AsnfsTer18
NM_001354663.1:c.772dup	NP_001341592.1:p.Thr258AsnfsTer18
NM_001354664.1:c.769dup	NP_001341593.1:p.Thr257AsnfsTer18
XR_001740158.2:n.1535dup
XR_001740159.2:n.1370dup
NM_001354663.2:c.772dup	NP_001341592.1:p.Thr258AsnfsTer18
NM_001354664.2:c.769dup	NP_001341593.1:p.Thr257AsnfsTer18
NM_130831.3:c.1033dup	NP_570844.1:p.Thr345AsnfsTer18
NM_130832.3:c.1087dup	NP_570845.1:p.Thr363AsnfsTer18
NM_130834.3:c.1195dup	NP_570847.2:p.Thr399AsnfsTer18
NM_130836.3:c.1252dup	NP_570849.2:p.Thr418AsnfsTer18
NM_015560.3:c.1141dup	NP_056375.2:p.Thr381AsnfsTer18
NM_130833.3:c.1144dup	NP_570846.1:p.Thr382AsnfsTer18
NM_130835.3:c.1198dup	NP_570848.1:p.Thr400AsnfsTer18
NM_130837.3:c.1306dup MANE Select	NP_570850.2:p.Thr436AsnfsTer18