Canonical Allele Identifier: CA322841
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214907
ClinVar RCV Id: RCV000198337
dbSNP Id: rs863224135

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193643440T>C , CM000665.2:g.193643440T>C GRCh38
NC_000003.11:g.193361229T>C , CM000665.1:g.193361229T>C GRCh37
NC_000003.10:g.194843923T>C NCBI36
NG_011605.1:g.55297T>C , LRG_337:g.55297T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361510.8:c.1373T>C MANE Select ENSP00000355324.2:p.Ile458Thr
ENST00000361828.7:c.1208T>C ENSP00000354429.3:p.Ile403Thr
ENST00000361908.8:c.1319T>C ENSP00000354681.3:p.Ile440Thr
ENST00000392436.7:c.1208T>C ENSP00000376231.3:p.Ile403Thr
ENST00000392437.6:c.1262T>C ENSP00000376232.2:p.Ile421Thr
ENST00000642289.1:c.1147T>C
ENST00000642445.1:c.1208T>C ENSP00000495535.1:p.Ile403Thr
ENST00000642593.1:c.1208T>C ENSP00000494273.1:p.Ile403Thr
ENST00000643329.1:c.890T>C ENSP00000493673.1:p.Ile297Thr
ENST00000643737.1:c.*1289T>C ENSP00000494210.1:n.*1289T>C
ENST00000644595.1:c.1208T>C ENSP00000494121.1:p.Ile403Thr
ENST00000644629.1:c.868T>C
ENST00000644841.1:c.836T>C ENSP00000493988.1:p.Ile279Thr
ENST00000644959.1:c.1177T>C
ENST00000645553.1:c.1223T>C ENSP00000494725.1:p.Ile408Thr
ENST00000646085.1:c.*686T>C ENSP00000494509.1:n.*686T>C
ENST00000646277.1:c.1373T>C ENSP00000495289.1:p.Ile458Thr
ENST00000646544.1:c.196T>C
ENST00000646699.1:c.1147T>C
ENST00000646793.1:c.1100T>C ENSP00000494512.1:p.Ile367Thr
ENST00000361150.6:c.1211T>C ENSP00000354781.2:p.Ile404Thr
ENST00000361510.6:c.1373T>C ENSP00000355324.2:p.Ile458Thr
ENST00000361715.6:c.1265T>C ENSP00000355311.2:p.Ile422Thr
ENST00000361828.6:c.1262T>C ENSP00000354429.2:p.Ile421Thr
ENST00000361908.7:c.1319T>C ENSP00000354681.3:p.Ile440Thr
ENST00000392438.7:c.1208T>C ENSP00000376233.3:p.Ile403Thr
ENST00000475899.1:n.404T>C
NM_015560.2:c.1208T>C , LRG_337t1:c.1208T>C NP_056375.2:p.Ile403Thr
NM_130831.2:c.1100T>C NP_570844.1:p.Ile367Thr
NM_130832.2:c.1154T>C NP_570845.1:p.Ile385Thr
NM_130833.2:c.1211T>C NP_570846.1:p.Ile404Thr
NM_130834.2:c.1262T>C NP_570847.2:p.Ile421Thr
NM_130835.2:c.1265T>C NP_570848.1:p.Ile422Thr
NM_130836.2:c.1319T>C NP_570849.2:p.Ile440Thr
NM_130837.2:c.1373T>C , LRG_337t2:c.1373T>C NP_570850.2:p.Ile458Thr
XM_011512863.1:c.1373T>C XP_011511165.1:p.Ile458Thr
XM_011512864.1:c.1319T>C XP_011511166.1:p.Ile440Thr
XM_011512865.1:c.1262T>C XP_011511167.1:p.Ile421Thr
XM_011512866.1:c.1211T>C XP_011511168.1:p.Ile404Thr
XM_011512867.1:c.1208T>C XP_011511169.1:p.Ile403Thr
XM_011512868.1:c.1100T>C XP_011511170.1:p.Ile367Thr
XM_011512869.1:c.1373T>C XP_011511171.1:p.Ile458Thr
NM_001354663.1:c.839T>C NP_001341592.1:p.Ile280Thr
NM_001354664.1:c.836T>C NP_001341593.1:p.Ile279Thr
XR_001740158.2:n.1602T>C
XR_001740159.2:n.1437T>C
NM_001354663.2:c.839T>C NP_001341592.1:p.Ile280Thr
NM_001354664.2:c.836T>C NP_001341593.1:p.Ile279Thr
NM_130831.3:c.1100T>C NP_570844.1:p.Ile367Thr
NM_130832.3:c.1154T>C NP_570845.1:p.Ile385Thr
NM_130834.3:c.1262T>C NP_570847.2:p.Ile421Thr
NM_130836.3:c.1319T>C NP_570849.2:p.Ile440Thr
NM_015560.3:c.1208T>C NP_056375.2:p.Ile403Thr
NM_130833.3:c.1211T>C NP_570846.1:p.Ile404Thr
NM_130835.3:c.1265T>C NP_570848.1:p.Ile422Thr
NM_130837.3:c.1373T>C MANE Select NP_570850.2:p.Ile458Thr