Canonical Allele Identifier: CA355788891
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432045
ClinVar RCV Id: RCV000498233
dbSNP Id: rs1180256773

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193642817G>A , CM000665.2:g.193642817G>A GRCh38
NC_000003.11:g.193360606G>A , CM000665.1:g.193360606G>A GRCh37
NC_000003.10:g.194843300G>A NCBI36
NG_011605.1:g.54674G>A , LRG_337:g.54674G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361510.8:c.1202G>A MANE Select ENSP00000355324.2:p.Arg401Gln
ENST00000361828.7:c.1037G>A ENSP00000354429.3:p.Arg346Gln
ENST00000361908.8:c.1148G>A ENSP00000354681.3:p.Arg383Gln
ENST00000392436.7:c.1037G>A ENSP00000376231.3:p.Arg346Gln
ENST00000392437.6:c.1091G>A ENSP00000376232.2:p.Arg364Gln
ENST00000642289.1:c.1080-556G>A
ENST00000642445.1:c.1037G>A ENSP00000495535.1:p.Arg346Gln
ENST00000642593.1:c.1037G>A ENSP00000494273.1:p.Arg346Gln
ENST00000643329.1:c.719G>A ENSP00000493673.1:p.Arg240Gln
ENST00000643737.1:c.*1118G>A ENSP00000494210.1:n.*1118G>A
ENST00000644595.1:c.1037G>A ENSP00000494121.1:p.Arg346Gln
ENST00000644629.1:c.697G>A
ENST00000644841.1:c.665G>A ENSP00000493988.1:p.Arg222Gln
ENST00000644959.1:c.1006G>A
ENST00000645553.1:c.1052G>A ENSP00000494725.1:p.Arg351Gln
ENST00000646085.1:c.*515G>A ENSP00000494509.1:n.*515G>A
ENST00000646277.1:c.1202G>A ENSP00000495289.1:p.Arg401Gln
ENST00000646544.1:c.100G>A
ENST00000646699.1:c.1080-556G>A
ENST00000646793.1:c.929G>A ENSP00000494512.1:p.Arg310Gln
ENST00000361150.6:c.1040G>A ENSP00000354781.2:p.Arg347Gln
ENST00000361510.6:c.1202G>A ENSP00000355324.2:p.Arg401Gln
ENST00000361715.6:c.1094G>A ENSP00000355311.2:p.Arg365Gln
ENST00000361828.6:c.1091G>A ENSP00000354429.2:p.Arg364Gln
ENST00000361908.7:c.1148G>A ENSP00000354681.3:p.Arg383Gln
ENST00000392438.7:c.1037G>A ENSP00000376233.3:p.Arg346Gln
ENST00000475899.1:n.233G>A
ENST00000497189.5:n.523G>A
NM_015560.2:c.1037G>A , LRG_337t1:c.1037G>A NP_056375.2:p.Arg346Gln
NM_130831.2:c.929G>A NP_570844.1:p.Arg310Gln
NM_130832.2:c.983G>A NP_570845.1:p.Arg328Gln
NM_130833.2:c.1040G>A NP_570846.1:p.Arg347Gln
NM_130834.2:c.1091G>A NP_570847.2:p.Arg364Gln
NM_130835.2:c.1094G>A NP_570848.1:p.Arg365Gln
NM_130836.2:c.1148G>A NP_570849.2:p.Arg383Gln
NM_130837.2:c.1202G>A , LRG_337t2:c.1202G>A NP_570850.2:p.Arg401Gln
XM_011512863.1:c.1202G>A XP_011511165.1:p.Arg401Gln
XM_011512864.1:c.1148G>A XP_011511166.1:p.Arg383Gln
XM_011512865.1:c.1091G>A XP_011511167.1:p.Arg364Gln
XM_011512866.1:c.1040G>A XP_011511168.1:p.Arg347Gln
XM_011512867.1:c.1037G>A XP_011511169.1:p.Arg346Gln
XM_011512868.1:c.929G>A XP_011511170.1:p.Arg310Gln
XM_011512869.1:c.1202G>A XP_011511171.1:p.Arg401Gln
NM_001354663.1:c.668G>A NP_001341592.1:p.Arg223Gln
NM_001354664.1:c.665G>A NP_001341593.1:p.Arg222Gln
XR_001740158.2:n.1431G>A
XR_001740159.2:n.1266G>A
NM_001354663.2:c.668G>A NP_001341592.1:p.Arg223Gln
NM_001354664.2:c.665G>A NP_001341593.1:p.Arg222Gln
NM_130831.3:c.929G>A NP_570844.1:p.Arg310Gln
NM_130832.3:c.983G>A NP_570845.1:p.Arg328Gln
NM_130834.3:c.1091G>A NP_570847.2:p.Arg364Gln
NM_130836.3:c.1148G>A NP_570849.2:p.Arg383Gln
NM_015560.3:c.1037G>A NP_056375.2:p.Arg346Gln
NM_130833.3:c.1040G>A NP_570846.1:p.Arg347Gln
NM_130835.3:c.1094G>A NP_570848.1:p.Arg365Gln
NM_130837.3:c.1202G>A MANE Select NP_570850.2:p.Arg401Gln