Canonical Allele Identifier: CA355792810
Gene: OPA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193659488A>T , CM000665.2:g.193659488A>T GRCh38
NC_000003.11:g.193377277A>T , CM000665.1:g.193377277A>T GRCh37
NC_000003.10:g.194859971A>T NCBI36
NG_011605.1:g.71345A>T , LRG_337:g.71345A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.2447A>T MANE Select ENSP00000355324.2:p.Asn816Ile
ENST00000361828.7:c.2282A>T ENSP00000354429.3:p.Asn761Ile
ENST00000361908.8:c.2393A>T ENSP00000354681.3:p.Asn798Ile
ENST00000392436.7:c.2282A>T ENSP00000376231.3:p.Asn761Ile
ENST00000392437.6:c.2336A>T ENSP00000376232.2:p.Asn779Ile
ENST00000642289.1:c.2221A>T
ENST00000642445.1:c.2282A>T ENSP00000495535.1:p.Asn761Ile
ENST00000642593.1:c.*507A>T ENSP00000494273.1:n.*507A>T
ENST00000643329.1:c.1964A>T ENSP00000493673.1:p.Asn655Ile
ENST00000643737.1:c.*2363A>T ENSP00000494210.1:n.*2363A>T
ENST00000644595.1:c.2282A>T ENSP00000494121.1:p.Asn761Ile
ENST00000644629.1:c.1869A>T
ENST00000644841.1:c.*766A>T ENSP00000493988.1:n.*766A>T
ENST00000644959.1:c.2276A>T
ENST00000645553.1:c.2297A>T ENSP00000494725.1:p.Asn766Ile
ENST00000646085.1:c.*1760A>T ENSP00000494509.1:n.*1760A>T
ENST00000646277.1:c.*883A>T ENSP00000495289.1:n.*883A>T
ENST00000646544.1:c.1270A>T
ENST00000646699.1:c.2221A>T
ENST00000646793.1:c.2174A>T ENSP00000494512.1:p.Asn725Ile
ENST00000361150.6:c.2285A>T ENSP00000354781.2:p.Asn762Ile
ENST00000361510.6:c.2447A>T ENSP00000355324.2:p.Asn816Ile
ENST00000361715.6:c.2339A>T ENSP00000355311.2:p.Asn780Ile
ENST00000361828.6:c.2336A>T ENSP00000354429.2:p.Asn779Ile
ENST00000361908.7:c.2393A>T ENSP00000354681.3:p.Asn798Ile
ENST00000392438.7:c.2282A>T ENSP00000376233.3:p.Asn761Ile
ENST00000482865.1:n.541A>T
NM_015560.2:c.2282A>T , LRG_337t1:c.2282A>T NP_056375.2:p.Asn761Ile
NM_130831.2:c.2174A>T NP_570844.1:p.Asn725Ile
NM_130832.2:c.2228A>T NP_570845.1:p.Asn743Ile
NM_130833.2:c.2285A>T NP_570846.1:p.Asn762Ile
NM_130834.2:c.2336A>T NP_570847.2:p.Asn779Ile
NM_130835.2:c.2339A>T NP_570848.1:p.Asn780Ile
NM_130836.2:c.2393A>T NP_570849.2:p.Asn798Ile
NM_130837.2:c.2447A>T , LRG_337t2:c.2447A>T NP_570850.2:p.Asn816Ile
XM_011512863.1:c.2447A>T XP_011511165.1:p.Asn816Ile
XM_011512864.1:c.2393A>T XP_011511166.1:p.Asn798Ile
XM_011512865.1:c.2336A>T XP_011511167.1:p.Asn779Ile
XM_011512866.1:c.2285A>T XP_011511168.1:p.Asn762Ile
XM_011512867.1:c.2282A>T XP_011511169.1:p.Asn761Ile
XM_011512868.1:c.2174A>T XP_011511170.1:p.Asn725Ile
XR_924835.1:n.582+9432T>A
NM_001354663.1:c.1913A>T NP_001341592.1:p.Asn638Ile
NM_001354664.1:c.1910A>T NP_001341593.1:p.Asn637Ile
XR_001740158.2:n.2701A>T
XR_001740159.2:n.2536A>T
XR_001741074.1:n.475+11320T>A
XR_924835.2:n.600+9432T>A
NM_001354663.2:c.1913A>T NP_001341592.1:p.Asn638Ile
NM_001354664.2:c.1910A>T NP_001341593.1:p.Asn637Ile
NM_130831.3:c.2174A>T NP_570844.1:p.Asn725Ile
NM_130832.3:c.2228A>T NP_570845.1:p.Asn743Ile
NM_130834.3:c.2336A>T NP_570847.2:p.Asn779Ile
NM_130836.3:c.2393A>T NP_570849.2:p.Asn798Ile
NM_015560.3:c.2282A>T NP_056375.2:p.Asn761Ile
NM_130833.3:c.2285A>T NP_570846.1:p.Asn762Ile
NM_130835.3:c.2339A>T NP_570848.1:p.Asn780Ile
NM_130837.3:c.2447A>T MANE Select NP_570850.2:p.Asn816Ile