Canonical Allele Identifier: CA2759937787

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642631_193642632dup , CM000665.2:g.193642631_193642632dup	GRCh38
NC_000003.11:g.193360420_193360421dup , CM000665.1:g.193360420_193360421dup	GRCh37
NC_000003.10:g.194843114_194843115dup	NCBI36
NG_011605.1:g.54488_54489dup , LRG_337:g.54488_54489dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1150-134_1150-133dup MANE Select	ENSP00000355324.2:n.1150-134_1150-133dup
ENST00000361828.7:c.985-134_985-133dup	ENSP00000354429.3:n.985-134_985-133dup
ENST00000361908.8:c.1096-134_1096-133dup	ENSP00000354681.3:n.1096-134_1096-133dup
ENST00000392436.7:c.985-134_985-133dup	ENSP00000376231.3:n.985-134_985-133dup
ENST00000392437.6:c.1039-134_1039-133dup	ENSP00000376232.2:n.1039-134_1039-133dup
ENST00000642289.1:c.1080-742_1080-741dup
ENST00000642445.1:c.985-134_985-133dup	ENSP00000495535.1:n.985-134_985-133dup
ENST00000642593.1:c.985-134_985-133dup	ENSP00000494273.1:n.985-134_985-133dup
ENST00000643329.1:c.667-134_667-133dup	ENSP00000493673.1:n.667-134_667-133dup
ENST00000643737.1:c.*1066-134_*1066-133dup	ENSP00000494210.1:n.*1066-134_*1066-133dup
ENST00000644595.1:c.985-134_985-133dup	ENSP00000494121.1:n.985-134_985-133dup
ENST00000644629.1:c.645-134_645-133dup
ENST00000644841.1:c.613-134_613-133dup	ENSP00000493988.1:n.613-134_613-133dup
ENST00000644959.1:c.954-134_954-133dup
ENST00000645553.1:c.1000-134_1000-133dup	ENSP00000494725.1:n.1000-134_1000-133dup
ENST00000646085.1:c.*463-134_*463-133dup	ENSP00000494509.1:n.*463-134_*463-133dup
ENST00000646277.1:c.1150-134_1150-133dup	ENSP00000495289.1:n.1150-134_1150-133dup
ENST00000646544.1:c.48-134_48-133dup
ENST00000646699.1:c.1080-742_1080-741dup
ENST00000646793.1:c.877-134_877-133dup	ENSP00000494512.1:n.877-134_877-133dup
ENST00000361150.6:c.988-134_988-133dup	ENSP00000354781.2:n.988-134_988-133dup
ENST00000361510.6:c.1150-134_1150-133dup	ENSP00000355324.2:n.1150-134_1150-133dup
ENST00000361715.6:c.1042-134_1042-133dup	ENSP00000355311.2:n.1042-134_1042-133dup
ENST00000361828.6:c.1039-134_1039-133dup	ENSP00000354429.2:n.1039-134_1039-133dup
ENST00000361908.7:c.1096-134_1096-133dup	ENSP00000354681.3:n.1096-134_1096-133dup
ENST00000392438.7:c.985-134_985-133dup	ENSP00000376233.3:n.985-134_985-133dup
ENST00000475899.1:n.181-134_181-133dup
ENST00000497189.5:n.471-134_471-133dup
NM_015560.2:c.985-134_985-133dup , LRG_337t1:c.985-134_985-133dup	NP_056375.2:n.985-134_985-133dup
NM_130831.2:c.877-134_877-133dup	NP_570844.1:n.877-134_877-133dup
NM_130832.2:c.931-134_931-133dup	NP_570845.1:n.931-134_931-133dup
NM_130833.2:c.988-134_988-133dup	NP_570846.1:n.988-134_988-133dup
NM_130834.2:c.1039-134_1039-133dup	NP_570847.2:n.1039-134_1039-133dup
NM_130835.2:c.1042-134_1042-133dup	NP_570848.1:n.1042-134_1042-133dup
NM_130836.2:c.1096-134_1096-133dup	NP_570849.2:n.1096-134_1096-133dup
NM_130837.2:c.1150-134_1150-133dup , LRG_337t2:c.1150-134_1150-133dup	NP_570850.2:n.1150-134_1150-133dup
XM_011512863.1:c.1150-134_1150-133dup	XP_011511165.1:n.1150-134_1150-133dup
XM_011512864.1:c.1096-134_1096-133dup	XP_011511166.1:n.1096-134_1096-133dup
XM_011512865.1:c.1039-134_1039-133dup	XP_011511167.1:n.1039-134_1039-133dup
XM_011512866.1:c.988-134_988-133dup	XP_011511168.1:n.988-134_988-133dup
XM_011512867.1:c.985-134_985-133dup	XP_011511169.1:n.985-134_985-133dup
XM_011512868.1:c.877-134_877-133dup	XP_011511170.1:n.877-134_877-133dup
XM_011512869.1:c.1150-134_1150-133dup	XP_011511171.1:n.1150-134_1150-133dup
NM_001354663.1:c.616-134_616-133dup	NP_001341592.1:n.616-134_616-133dup
NM_001354664.1:c.613-134_613-133dup	NP_001341593.1:n.613-134_613-133dup
XR_001740158.2:n.1379-134_1379-133dup
XR_001740159.2:n.1214-134_1214-133dup
NM_001354663.2:c.616-134_616-133dup	NP_001341592.1:n.616-134_616-133dup
NM_001354664.2:c.613-134_613-133dup	NP_001341593.1:n.613-134_613-133dup
NM_130831.3:c.877-134_877-133dup	NP_570844.1:n.877-134_877-133dup
NM_130832.3:c.931-134_931-133dup	NP_570845.1:n.931-134_931-133dup
NM_130834.3:c.1039-134_1039-133dup	NP_570847.2:n.1039-134_1039-133dup
NM_130836.3:c.1096-134_1096-133dup	NP_570849.2:n.1096-134_1096-133dup
NM_015560.3:c.985-134_985-133dup	NP_056375.2:n.985-134_985-133dup
NM_130833.3:c.988-134_988-133dup	NP_570846.1:n.988-134_988-133dup
NM_130835.3:c.1042-134_1042-133dup	NP_570848.1:n.1042-134_1042-133dup
NM_130837.3:c.1150-134_1150-133dup MANE Select	NP_570850.2:n.1150-134_1150-133dup