Canonical Allele Identifier: CA285739
Gene: OPA1 HGNC NCBI
OPA1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95729
dbSNP Id: rs34307082

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193618887C>T , CM000665.2:g.193618887C>T GRCh38
NC_000003.11:g.193336676C>T , CM000665.1:g.193336676C>T GRCh37
NC_000003.10:g.194819370C>T NCBI36
NG_011605.1:g.30744C>T , LRG_337:g.30744C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.629C>T (OPA1) MANE Select ENSP00000355324.2:p.Ala210Val
ENST00000361828.7:c.575C>T (OPA1) ENSP00000354429.3:p.Ala192Val
ENST00000361908.8:c.575C>T (OPA1) ENSP00000354681.3:p.Ala192Val
ENST00000392436.7:c.575C>T (OPA1) ENSP00000376231.3:p.Ala192Val
ENST00000392437.6:c.629C>T (OPA1) ENSP00000376232.2:p.Ala210Val
ENST00000434811.2:c.415C>T (OPA1)
ENST00000642289.1:c.670C>T (OPA1)
ENST00000642445.1:c.575C>T (OPA1) ENSP00000495535.1:p.Ala192Val
ENST00000642593.1:c.575C>T (OPA1) ENSP00000494273.1:p.Ala192Val
ENST00000643329.1:c.257C>T (OPA1) ENSP00000493673.1:p.Ala86Val
ENST00000643737.1:c.*656C>T (OPA1) ENSP00000494210.1:n.*656C>T
ENST00000644595.1:c.575C>T (OPA1) ENSP00000494121.1:p.Ala192Val
ENST00000644629.1:c.235C>T (OPA1)
ENST00000644841.1:c.203C>T (OPA1) ENSP00000493988.1:p.Ala68Val
ENST00000644959.1:c.544C>T (OPA1)
ENST00000645553.1:c.575C>T (OPA1) ENSP00000494725.1:p.Ala192Val
ENST00000646085.1:c.575C>T (OPA1) ENSP00000494509.1:p.Ala192Val
ENST00000646277.1:c.629C>T (OPA1) ENSP00000495289.1:p.Ala210Val
ENST00000646699.1:c.670C>T (OPA1)
ENST00000646793.1:c.467C>T (OPA1) ENSP00000494512.1:p.Ala156Val
ENST00000361150.6:c.467C>T (OPA1) ENSP00000354781.2:p.Ala156Val
ENST00000361510.6:c.629C>T (OPA1) ENSP00000355324.2:p.Ala210Val
ENST00000361715.6:c.521C>T (OPA1) ENSP00000355311.2:p.Ala174Val
ENST00000361828.6:c.629C>T (OPA1) ENSP00000354429.2:p.Ala210Val
ENST00000361908.7:c.575C>T (OPA1) ENSP00000354681.3:p.Ala192Val
ENST00000392436.6:c.629C>T (OPA1) ENSP00000376231.2:p.Ala210Val
ENST00000392437.5:c.467C>T (OPA1) ENSP00000376232.1:p.Ala156Val
ENST00000392438.7:c.575C>T (OPA1) ENSP00000376233.3:p.Ala192Val
ENST00000419435.5:c.203C>T (OPA1) ENSP00000399877.1:p.Ala68Val
ENST00000434811.1:c.328C>T (OPA1)
ENST00000487986.1:n.478C>T (OPA1)
ENST00000497189.5:n.61C>T (OPA1)
NM_015560.2:c.575C>T , LRG_337t1:c.575C>T (OPA1) NP_056375.2:p.Ala192Val
NM_130831.2:c.467C>T (OPA1) NP_570844.1:p.Ala156Val
NM_130832.2:c.521C>T (OPA1) NP_570845.1:p.Ala174Val
NM_130833.2:c.467C>T (OPA1) NP_570846.1:p.Ala156Val
NM_130834.2:c.629C>T (OPA1) NP_570847.2:p.Ala210Val
NM_130835.2:c.521C>T (OPA1) NP_570848.1:p.Ala174Val
NM_130836.2:c.575C>T (OPA1) NP_570849.2:p.Ala192Val
NM_130837.2:c.629C>T , LRG_337t2:c.629C>T (OPA1) NP_570850.2:p.Ala210Val
NR_046634.1:n.214G>A (OPA1-AS1)
XM_011512863.1:c.629C>T (OPA1) XP_011511165.1:p.Ala210Val
XM_011512864.1:c.575C>T (OPA1) XP_011511166.1:p.Ala192Val
XM_011512865.1:c.629C>T (OPA1) XP_011511167.1:p.Ala210Val
XM_011512866.1:c.467C>T (OPA1) XP_011511168.1:p.Ala156Val
XM_011512867.1:c.575C>T (OPA1) XP_011511169.1:p.Ala192Val
XM_011512868.1:c.467C>T (OPA1) XP_011511170.1:p.Ala156Val
XM_011512869.1:c.629C>T (OPA1) XP_011511171.1:p.Ala210Val
NM_001354663.1:c.95C>T (OPA1) NP_001341592.1:p.Ala32Val
NM_001354664.1:c.203C>T (OPA1) NP_001341593.1:p.Ala68Val
XR_001740158.2:n.858C>T (OPA1)
XR_001740159.2:n.804C>T (OPA1)
NM_001354663.2:c.95C>T (OPA1) NP_001341592.1:p.Ala32Val
NM_001354664.2:c.203C>T (OPA1) NP_001341593.1:p.Ala68Val
NM_130831.3:c.467C>T (OPA1) NP_570844.1:p.Ala156Val
NM_130832.3:c.521C>T (OPA1) NP_570845.1:p.Ala174Val
NM_130834.3:c.629C>T (OPA1) NP_570847.2:p.Ala210Val
NM_130836.3:c.575C>T (OPA1) NP_570849.2:p.Ala192Val
NM_015560.3:c.575C>T (OPA1) NP_056375.2:p.Ala192Val
NM_130833.3:c.467C>T (OPA1) NP_570846.1:p.Ala156Val
NM_130835.3:c.521C>T (OPA1) NP_570848.1:p.Ala174Val
NM_130837.3:c.629C>T (OPA1) MANE Select NP_570850.2:p.Ala210Val