Canonical Allele Identifier: CA90574844
Community Standard Title: NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)
Gene: OPA1 HGNC NCBI
OPA1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193626152C>T , CM000665.2:g.193626152C>T GRCh38
NC_000003.11:g.193343941C>T , CM000665.1:g.193343941C>T GRCh37
NC_000003.10:g.194826635C>T NCBI36
NG_011605.1:g.38009C>T , LRG_337:g.38009C>T

Transcript Alleles

HGVS Amino-acid Change
NM_130837.3:c.739C>T (OPA1) MANE Select NP_570850.2:p.Arg247Cys
ENST00000361510.8:c.739C>T (OPA1) MANE Select ENSP00000355324.2:p.Arg247Cys
NM_001354663.1:c.205C>T (OPA1) NP_001341592.1:p.Arg69Cys
NM_001354663.2:c.205C>T (OPA1) NP_001341592.1:p.Arg69Cys
NM_001354664.1:c.253-5460C>T (OPA1) NP_001341593.1:n.253-5460C>T
NM_001354664.2:c.253-5460C>T (OPA1) NP_001341593.1:n.253-5460C>T
NM_015560.2:c.625-5460C>T , LRG_337t1:c.625-5460C>T (OPA1) NP_056375.2:n.625-5460C>T
NM_015560.3:c.625-5460C>T (OPA1) NP_056375.2:n.625-5460C>T
NM_130831.2:c.517-5460C>T (OPA1) NP_570844.1:n.517-5460C>T
NM_130831.3:c.517-5460C>T (OPA1) NP_570844.1:n.517-5460C>T
NM_130832.2:c.571-5460C>T (OPA1) NP_570845.1:n.571-5460C>T
NM_130832.3:c.571-5460C>T (OPA1) NP_570845.1:n.571-5460C>T
NM_130833.2:c.577C>T (OPA1) NP_570846.1:p.Arg193Cys
NM_130833.3:c.577C>T (OPA1) NP_570846.1:p.Arg193Cys
NM_130834.2:c.679-5460C>T (OPA1) NP_570847.2:n.679-5460C>T
NM_130834.3:c.679-5460C>T (OPA1) NP_570847.2:n.679-5460C>T
NM_130835.2:c.631C>T (OPA1) NP_570848.1:p.Arg211Cys
NM_130835.3:c.631C>T (OPA1) NP_570848.1:p.Arg211Cys
NM_130836.2:c.685C>T (OPA1) NP_570849.2:p.Arg229Cys
NM_130836.3:c.685C>T (OPA1) NP_570849.2:p.Arg229Cys
NM_130837.2:c.739C>T , LRG_337t2:c.739C>T (OPA1) NP_570850.2:p.Arg247Cys
NR_046634.1:n.104+1077G>A (OPA1-AS1)
ENST00000361150.6:c.577C>T (OPA1) ENSP00000354781.2:p.Arg193Cys
ENST00000361510.6:c.739C>T (OPA1) ENSP00000355324.2:p.Arg247Cys
ENST00000361715.6:c.631C>T (OPA1) ENSP00000355311.2:p.Arg211Cys
ENST00000361828.6:c.679-5460C>T (OPA1) ENSP00000354429.2:n.679-5460C>T
ENST00000361828.7:c.625-5460C>T (OPA1) ENSP00000354429.3:n.625-5460C>T
ENST00000361908.7:c.685C>T (OPA1) ENSP00000354681.3:p.Arg229Cys
ENST00000361908.8:c.685C>T (OPA1) ENSP00000354681.3:p.Arg229Cys
ENST00000392436.7:c.625-5460C>T (OPA1) ENSP00000376231.3:n.625-5460C>T
ENST00000392437.6:c.679-5460C>T (OPA1) ENSP00000376232.2:n.679-5460C>T
ENST00000392438.7:c.625-5460C>T (OPA1) ENSP00000376233.3:n.625-5460C>T
ENST00000434811.1:c.378-5460C>T (OPA1)
ENST00000434811.2:c.525C>T (OPA1)
ENST00000487986.1:n.528-2357C>T (OPA1)
ENST00000495476.1:n.95C>T (OPA1)
ENST00000497189.5:n.111-5460C>T (OPA1)
ENST00000642289.1:c.720-5460C>T (OPA1)
ENST00000642445.1:c.625-5460C>T (OPA1) ENSP00000495535.1:n.625-5460C>T
ENST00000642593.1:c.625-5460C>T (OPA1) ENSP00000494273.1:n.625-5460C>T
ENST00000643329.1:c.307-5460C>T (OPA1) ENSP00000493673.1:n.307-5460C>T
ENST00000643737.1:c.*706-5460C>T (OPA1) ENSP00000494210.1:n.*706-5460C>T
ENST00000644595.1:c.625-5460C>T (OPA1) ENSP00000494121.1:n.625-5460C>T
ENST00000644629.1:c.285-5460C>T (OPA1)
ENST00000644841.1:c.253-5460C>T (OPA1) ENSP00000493988.1:n.253-5460C>T
ENST00000644959.1:c.594-5460C>T (OPA1)
ENST00000645553.1:c.625-5460C>T (OPA1) ENSP00000494725.1:n.625-5460C>T
ENST00000646085.1:c.625-2357C>T (OPA1) ENSP00000494509.1:n.625-2357C>T
ENST00000646277.1:c.739C>T (OPA1) ENSP00000495289.1:p.Arg247Cys
ENST00000646699.1:c.720-5460C>T (OPA1)
ENST00000646793.1:c.517-5460C>T (OPA1) ENSP00000494512.1:n.517-5460C>T
XM_011512863.1:c.739C>T (OPA1) XP_011511165.1:p.Arg247Cys
XM_011512864.1:c.685C>T (OPA1) XP_011511166.1:p.Arg229Cys
XM_011512865.1:c.679-5460C>T (OPA1) XP_011511167.1:n.679-5460C>T
XM_011512866.1:c.577C>T (OPA1) XP_011511168.1:p.Arg193Cys
XM_011512867.1:c.625-5460C>T (OPA1) XP_011511169.1:n.625-5460C>T
XM_011512868.1:c.517-5460C>T (OPA1) XP_011511170.1:n.517-5460C>T
XM_011512869.1:c.739C>T (OPA1) XP_011511171.1:p.Arg247Cys
XR_001740158.2:n.968C>T (OPA1)
XR_001740159.2:n.854-5460C>T (OPA1)