Canonical Allele Identifier: CA16617865
Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419817
ClinVar RCV Id: RCV000484149
dbSNP Id: rs1064794125

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193647124del , CM000665.2:g.193647124del GRCh38
NC_000003.11:g.193364913del , CM000665.1:g.193364913del GRCh37
NC_000003.10:g.194847607del NCBI36
NG_011605.1:g.58981del , LRG_337:g.58981del

Transcript Alleles

HGVS Amino-acid change
ENST00000361510.8:c.1814del MANE Select ENSP00000355324.2:p.Asp605AlafsTer?
ENST00000361828.7:c.1649del ENSP00000354429.3:p.Asp550AlafsTer?
ENST00000361908.8:c.1760del ENSP00000354681.3:p.Asp587AlafsTer?
ENST00000392436.7:c.1649del ENSP00000376231.3:p.Asp550AlafsTer?
ENST00000392437.6:c.1703del ENSP00000376232.2:p.Asp568AlafsTer?
ENST00000642289.1:c.1588del
ENST00000642445.1:c.1649del ENSP00000495535.1:p.Asp550AlafsTer?
ENST00000642593.1:c.1649del ENSP00000494273.1:p.Asp550AlafsTer?
ENST00000643329.1:c.1331del ENSP00000493673.1:p.Asp444AlafsTer?
ENST00000643737.1:c.*1730del ENSP00000494210.1:n.*1730del
ENST00000644595.1:c.1649del ENSP00000494121.1:p.Asp550AlafsTer?
ENST00000644629.1:c.1236del
ENST00000644841.1:c.*133del ENSP00000493988.1:n.*133del
ENST00000644959.1:c.1618del
ENST00000645553.1:c.1664del ENSP00000494725.1:p.Asp555AlafsTer?
ENST00000646085.1:c.*1127del ENSP00000494509.1:n.*1127del
ENST00000646277.1:c.*250del ENSP00000495289.1:n.*250del
ENST00000646544.1:c.637del
ENST00000646699.1:c.1588del
ENST00000646793.1:c.1541del ENSP00000494512.1:p.Asp514AlafsTer?
ENST00000361150.6:c.1652del ENSP00000354781.2:p.Asp551AlafsTer?
ENST00000361510.6:c.1814del ENSP00000355324.2:p.Asp605AlafsTer?
ENST00000361715.6:c.1706del ENSP00000355311.2:p.Asp569AlafsTer?
ENST00000361828.6:c.1703del ENSP00000354429.2:p.Asp568AlafsTer?
ENST00000361908.7:c.1760del ENSP00000354681.3:p.Asp587AlafsTer?
ENST00000392438.7:c.1649del ENSP00000376233.3:p.Asp550AlafsTer?
ENST00000483516.1:n.147del
NM_015560.2:c.1649del , LRG_337t1:c.1649del NP_056375.2:p.Asp550AlafsTer?
NM_130831.2:c.1541del NP_570844.1:p.Asp514AlafsTer?
NM_130832.2:c.1595del NP_570845.1:p.Asp532AlafsTer?
NM_130833.2:c.1652del NP_570846.1:p.Asp551AlafsTer?
NM_130834.2:c.1703del NP_570847.2:p.Asp568AlafsTer?
NM_130835.2:c.1706del NP_570848.1:p.Asp569AlafsTer?
NM_130836.2:c.1760del NP_570849.2:p.Asp587AlafsTer?
NM_130837.2:c.1814del , LRG_337t2:c.1814del NP_570850.2:p.Asp605AlafsTer?
XM_011512863.1:c.1814del XP_011511165.1:p.Asp605AlafsTer?
XM_011512864.1:c.1760del XP_011511166.1:p.Asp587AlafsTer?
XM_011512865.1:c.1703del XP_011511167.1:p.Asp568AlafsTer?
XM_011512866.1:c.1652del XP_011511168.1:p.Asp551AlafsTer?
XM_011512867.1:c.1649del XP_011511169.1:p.Asp550AlafsTer?
XM_011512868.1:c.1541del XP_011511170.1:p.Asp514AlafsTer?
XM_011512869.1:c.1814del XP_011511171.1:p.Asp605AlafsTer?
NM_001354663.1:c.1280del NP_001341592.1:p.Asp427AlafsTer?
NM_001354664.1:c.1277del NP_001341593.1:p.Asp426AlafsTer?
XR_001740158.2:n.2043del
XR_001740159.2:n.1878del
NM_001354663.2:c.1280del NP_001341592.1:p.Asp427AlafsTer?
NM_001354664.2:c.1277del NP_001341593.1:p.Asp426AlafsTer?
NM_130831.3:c.1541del NP_570844.1:p.Asp514AlafsTer?
NM_130832.3:c.1595del NP_570845.1:p.Asp532AlafsTer?
NM_130834.3:c.1703del NP_570847.2:p.Asp568AlafsTer?
NM_130836.3:c.1760del NP_570849.2:p.Asp587AlafsTer?
NM_015560.3:c.1649del NP_056375.2:p.Asp550AlafsTer?
NM_130833.3:c.1652del NP_570846.1:p.Asp551AlafsTer?
NM_130835.3:c.1706del NP_570848.1:p.Asp569AlafsTer?
NM_130837.3:c.1814del MANE Select NP_570850.2:p.Asp605AlafsTer?