Canonical Allele Identifier: CA2573136852

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1402595
• ClinVar RCV Id: RCV001906499
• dbSNP Id: rs2109039751

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642829_193642830dup , CM000665.2:g.193642829_193642830dup	GRCh38
NC_000003.11:g.193360618_193360619dup , CM000665.1:g.193360618_193360619dup	GRCh37
NC_000003.10:g.194843312_194843313dup	NCBI36
NG_011605.1:g.54686_54687dup , LRG_337:g.54686_54687dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1214_1215dup MANE Select	ENSP00000355324.2:p.Thr406LeufsTer10
ENST00000361828.7:c.1049_1050dup	ENSP00000354429.3:p.Thr351LeufsTer10
ENST00000361908.8:c.1160_1161dup	ENSP00000354681.3:p.Thr388LeufsTer10
ENST00000392436.7:c.1049_1050dup	ENSP00000376231.3:p.Thr351LeufsTer10
ENST00000392437.6:c.1103_1104dup	ENSP00000376232.2:p.Thr369LeufsTer10
ENST00000642289.1:c.1080-544_1080-543dup
ENST00000642445.1:c.1049_1050dup	ENSP00000495535.1:p.Thr351LeufsTer10
ENST00000642593.1:c.1049_1050dup	ENSP00000494273.1:p.Thr351LeufsTer10
ENST00000643329.1:c.731_732dup	ENSP00000493673.1:p.Thr245LeufsTer10
ENST00000643737.1:c.*1130_*1131dup	ENSP00000494210.1:n.*1130_*1131dup
ENST00000644595.1:c.1049_1050dup	ENSP00000494121.1:p.Thr351LeufsTer10
ENST00000644629.1:c.709_710dup
ENST00000644841.1:c.677_678dup	ENSP00000493988.1:p.Thr227LeufsTer10
ENST00000644959.1:c.1018_1019dup
ENST00000645553.1:c.1064_1065dup	ENSP00000494725.1:p.Thr356LeufsTer10
ENST00000646085.1:c.*527_*528dup	ENSP00000494509.1:n.*527_*528dup
ENST00000646277.1:c.1214_1215dup	ENSP00000495289.1:p.Thr406LeufsTer10
ENST00000646544.1:c.112_113dup
ENST00000646699.1:c.1080-544_1080-543dup
ENST00000646793.1:c.941_942dup	ENSP00000494512.1:p.Thr315LeufsTer10
ENST00000361150.6:c.1052_1053dup	ENSP00000354781.2:p.Thr352LeufsTer10
ENST00000361510.6:c.1214_1215dup	ENSP00000355324.2:p.Thr406LeufsTer10
ENST00000361715.6:c.1106_1107dup	ENSP00000355311.2:p.Thr370LeufsTer10
ENST00000361828.6:c.1103_1104dup	ENSP00000354429.2:p.Thr369LeufsTer10
ENST00000361908.7:c.1160_1161dup	ENSP00000354681.3:p.Thr388LeufsTer10
ENST00000392438.7:c.1049_1050dup	ENSP00000376233.3:p.Thr351LeufsTer10
ENST00000475899.1:n.245_246dup
ENST00000497189.5:n.535_536dup
NM_015560.2:c.1049_1050dup , LRG_337t1:c.1049_1050dup	NP_056375.2:p.Thr351LeufsTer10
NM_130831.2:c.941_942dup	NP_570844.1:p.Thr315LeufsTer10
NM_130832.2:c.995_996dup	NP_570845.1:p.Thr333LeufsTer10
NM_130833.2:c.1052_1053dup	NP_570846.1:p.Thr352LeufsTer10
NM_130834.2:c.1103_1104dup	NP_570847.2:p.Thr369LeufsTer10
NM_130835.2:c.1106_1107dup	NP_570848.1:p.Thr370LeufsTer10
NM_130836.2:c.1160_1161dup	NP_570849.2:p.Thr388LeufsTer10
NM_130837.2:c.1214_1215dup , LRG_337t2:c.1214_1215dup	NP_570850.2:p.Thr406LeufsTer10
XM_011512863.1:c.1214_1215dup	XP_011511165.1:p.Thr406LeufsTer10
XM_011512864.1:c.1160_1161dup	XP_011511166.1:p.Thr388LeufsTer10
XM_011512865.1:c.1103_1104dup	XP_011511167.1:p.Thr369LeufsTer10
XM_011512866.1:c.1052_1053dup	XP_011511168.1:p.Thr352LeufsTer10
XM_011512867.1:c.1049_1050dup	XP_011511169.1:p.Thr351LeufsTer10
XM_011512868.1:c.941_942dup	XP_011511170.1:p.Thr315LeufsTer10
XM_011512869.1:c.1214_1215dup	XP_011511171.1:p.Thr406LeufsTer10
NM_001354663.1:c.680_681dup	NP_001341592.1:p.Thr228LeufsTer10
NM_001354664.1:c.677_678dup	NP_001341593.1:p.Thr227LeufsTer10
XR_001740158.2:n.1443_1444dup
XR_001740159.2:n.1278_1279dup
NM_001354663.2:c.680_681dup	NP_001341592.1:p.Thr228LeufsTer10
NM_001354664.2:c.677_678dup	NP_001341593.1:p.Thr227LeufsTer10
NM_130831.3:c.941_942dup	NP_570844.1:p.Thr315LeufsTer10
NM_130832.3:c.995_996dup	NP_570845.1:p.Thr333LeufsTer10
NM_130834.3:c.1103_1104dup	NP_570847.2:p.Thr369LeufsTer10
NM_130836.3:c.1160_1161dup	NP_570849.2:p.Thr388LeufsTer10
NM_015560.3:c.1049_1050dup	NP_056375.2:p.Thr351LeufsTer10
NM_130833.3:c.1052_1053dup	NP_570846.1:p.Thr352LeufsTer10
NM_130835.3:c.1106_1107dup	NP_570848.1:p.Thr370LeufsTer10
NM_130837.3:c.1214_1215dup MANE Select	NP_570850.2:p.Thr406LeufsTer10