Canonical Allele Identifier: CA1430244416
Gene: OPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1734043380

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193643220_193643221dup , CM000665.2:g.193643220_193643221dup GRCh38
NC_000003.11:g.193361009_193361010dup , CM000665.1:g.193361009_193361010dup GRCh37
NC_000003.10:g.194843703_194843704dup NCBI36
NG_011605.1:g.55077_55078dup , LRG_337:g.55077_55078dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1306-153_1306-152dup MANE Select ENSP00000355324.2:n.1306-153_1306-152dup
ENST00000361828.7:c.1141-153_1141-152dup ENSP00000354429.3:n.1141-153_1141-152dup
ENST00000361908.8:c.1252-153_1252-152dup ENSP00000354681.3:n.1252-153_1252-152dup
ENST00000392436.7:c.1141-153_1141-152dup ENSP00000376231.3:n.1141-153_1141-152dup
ENST00000392437.6:c.1195-153_1195-152dup ENSP00000376232.2:n.1195-153_1195-152dup
ENST00000642289.1:c.1080-153_1080-152dup
ENST00000642445.1:c.1141-153_1141-152dup ENSP00000495535.1:n.1141-153_1141-152dup
ENST00000642593.1:c.1141-153_1141-152dup ENSP00000494273.1:n.1141-153_1141-152dup
ENST00000643329.1:c.823-153_823-152dup ENSP00000493673.1:n.823-153_823-152dup
ENST00000643737.1:c.*1222-153_*1222-152dup ENSP00000494210.1:n.*1222-153_*1222-152dup
ENST00000644595.1:c.1141-153_1141-152dup ENSP00000494121.1:n.1141-153_1141-152dup
ENST00000644629.1:c.801-153_801-152dup
ENST00000644841.1:c.769-153_769-152dup ENSP00000493988.1:n.769-153_769-152dup
ENST00000644959.1:c.1110-153_1110-152dup
ENST00000645553.1:c.1156-153_1156-152dup ENSP00000494725.1:n.1156-153_1156-152dup
ENST00000646085.1:c.*619-153_*619-152dup ENSP00000494509.1:n.*619-153_*619-152dup
ENST00000646277.1:c.1306-153_1306-152dup ENSP00000495289.1:n.1306-153_1306-152dup
ENST00000646544.1:c.129-153_129-152dup
ENST00000646699.1:c.1080-153_1080-152dup
ENST00000646793.1:c.1033-153_1033-152dup ENSP00000494512.1:n.1033-153_1033-152dup
ENST00000361150.6:c.1144-153_1144-152dup ENSP00000354781.2:n.1144-153_1144-152dup
ENST00000361510.6:c.1306-153_1306-152dup ENSP00000355324.2:n.1306-153_1306-152dup
ENST00000361715.6:c.1198-153_1198-152dup ENSP00000355311.2:n.1198-153_1198-152dup
ENST00000361828.6:c.1195-153_1195-152dup ENSP00000354429.2:n.1195-153_1195-152dup
ENST00000361908.7:c.1252-153_1252-152dup ENSP00000354681.3:n.1252-153_1252-152dup
ENST00000392438.7:c.1141-153_1141-152dup ENSP00000376233.3:n.1141-153_1141-152dup
ENST00000475899.1:n.337-153_337-152dup
NM_015560.2:c.1141-153_1141-152dup , LRG_337t1:c.1141-153_1141-152dup NP_056375.2:n.1141-153_1141-152dup
NM_130831.2:c.1033-153_1033-152dup NP_570844.1:n.1033-153_1033-152dup
NM_130832.2:c.1087-153_1087-152dup NP_570845.1:n.1087-153_1087-152dup
NM_130833.2:c.1144-153_1144-152dup NP_570846.1:n.1144-153_1144-152dup
NM_130834.2:c.1195-153_1195-152dup NP_570847.2:n.1195-153_1195-152dup
NM_130835.2:c.1198-153_1198-152dup NP_570848.1:n.1198-153_1198-152dup
NM_130836.2:c.1252-153_1252-152dup NP_570849.2:n.1252-153_1252-152dup
NM_130837.2:c.1306-153_1306-152dup , LRG_337t2:c.1306-153_1306-152dup NP_570850.2:n.1306-153_1306-152dup
XM_011512863.1:c.1306-153_1306-152dup XP_011511165.1:n.1306-153_1306-152dup
XM_011512864.1:c.1252-153_1252-152dup XP_011511166.1:n.1252-153_1252-152dup
XM_011512865.1:c.1195-153_1195-152dup XP_011511167.1:n.1195-153_1195-152dup
XM_011512866.1:c.1144-153_1144-152dup XP_011511168.1:n.1144-153_1144-152dup
XM_011512867.1:c.1141-153_1141-152dup XP_011511169.1:n.1141-153_1141-152dup
XM_011512868.1:c.1033-153_1033-152dup XP_011511170.1:n.1033-153_1033-152dup
XM_011512869.1:c.1306-153_1306-152dup XP_011511171.1:n.1306-153_1306-152dup
NM_001354663.1:c.772-153_772-152dup NP_001341592.1:n.772-153_772-152dup
NM_001354664.1:c.769-153_769-152dup NP_001341593.1:n.769-153_769-152dup
XR_001740158.2:n.1535-153_1535-152dup
XR_001740159.2:n.1370-153_1370-152dup
NM_001354663.2:c.772-153_772-152dup NP_001341592.1:n.772-153_772-152dup
NM_001354664.2:c.769-153_769-152dup NP_001341593.1:n.769-153_769-152dup
NM_130831.3:c.1033-153_1033-152dup NP_570844.1:n.1033-153_1033-152dup
NM_130832.3:c.1087-153_1087-152dup NP_570845.1:n.1087-153_1087-152dup
NM_130834.3:c.1195-153_1195-152dup NP_570847.2:n.1195-153_1195-152dup
NM_130836.3:c.1252-153_1252-152dup NP_570849.2:n.1252-153_1252-152dup
NM_015560.3:c.1141-153_1141-152dup NP_056375.2:n.1141-153_1141-152dup
NM_130833.3:c.1144-153_1144-152dup NP_570846.1:n.1144-153_1144-152dup
NM_130835.3:c.1198-153_1198-152dup NP_570848.1:n.1198-153_1198-152dup
NM_130837.3:c.1306-153_1306-152dup MANE Select NP_570850.2:n.1306-153_1306-152dup