Canonical Allele Identifier: CA279008
Gene: OPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193657197C>T , CM000665.2:g.193657197C>T GRCh38
NC_000003.11:g.193374986C>T , CM000665.1:g.193374986C>T GRCh37
NC_000003.10:g.194857680C>T NCBI36
NG_011605.1:g.69054C>T , LRG_337:g.69054C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.2296C>T MANE Select ENSP00000355324.2:p.Arg766Ter
ENST00000361828.7:c.2131C>T ENSP00000354429.3:p.Arg711Ter
ENST00000361908.8:c.2242C>T ENSP00000354681.3:p.Arg748Ter
ENST00000392436.7:c.2131C>T ENSP00000376231.3:p.Arg711Ter
ENST00000392437.6:c.2185C>T ENSP00000376232.2:p.Arg729Ter
ENST00000642289.1:c.2070C>T
ENST00000642445.1:c.2131C>T ENSP00000495535.1:p.Arg711Ter
ENST00000642593.1:c.*356C>T ENSP00000494273.1:n.*356C>T
ENST00000643329.1:c.1813C>T ENSP00000493673.1:p.Arg605Ter
ENST00000643737.1:c.*2212C>T ENSP00000494210.1:n.*2212C>T
ENST00000644595.1:c.2131C>T ENSP00000494121.1:p.Arg711Ter
ENST00000644629.1:c.1718C>T
ENST00000644841.1:c.*615C>T ENSP00000493988.1:n.*615C>T
ENST00000644959.1:c.2125C>T
ENST00000645553.1:c.2146C>T ENSP00000494725.1:p.Arg716Ter
ENST00000646085.1:c.*1609C>T ENSP00000494509.1:n.*1609C>T
ENST00000646277.1:c.*732C>T ENSP00000495289.1:n.*732C>T
ENST00000646544.1:c.1119C>T
ENST00000646699.1:c.2070C>T
ENST00000646793.1:c.2023C>T ENSP00000494512.1:p.Arg675Ter
ENST00000361150.6:c.2134C>T ENSP00000354781.2:p.Arg712Ter
ENST00000361510.6:c.2296C>T ENSP00000355324.2:p.Arg766Ter
ENST00000361715.6:c.2188C>T ENSP00000355311.2:p.Arg730Ter
ENST00000361828.6:c.2185C>T ENSP00000354429.2:p.Arg729Ter
ENST00000361908.7:c.2242C>T ENSP00000354681.3:p.Arg748Ter
ENST00000392438.7:c.2131C>T ENSP00000376233.3:p.Arg711Ter
ENST00000482865.1:n.390C>T
NM_015560.2:c.2131C>T , LRG_337t1:c.2131C>T NP_056375.2:p.Arg711Ter
NM_130831.2:c.2023C>T NP_570844.1:p.Arg675Ter
NM_130832.2:c.2077C>T NP_570845.1:p.Arg693Ter
NM_130833.2:c.2134C>T NP_570846.1:p.Arg712Ter
NM_130834.2:c.2185C>T NP_570847.2:p.Arg729Ter
NM_130835.2:c.2188C>T NP_570848.1:p.Arg730Ter
NM_130836.2:c.2242C>T NP_570849.2:p.Arg748Ter
NM_130837.2:c.2296C>T , LRG_337t2:c.2296C>T NP_570850.2:p.Arg766Ter
XM_011512863.1:c.2296C>T XP_011511165.1:p.Arg766Ter
XM_011512864.1:c.2242C>T XP_011511166.1:p.Arg748Ter
XM_011512865.1:c.2185C>T XP_011511167.1:p.Arg729Ter
XM_011512866.1:c.2134C>T XP_011511168.1:p.Arg712Ter
XM_011512867.1:c.2131C>T XP_011511169.1:p.Arg711Ter
XM_011512868.1:c.2023C>T XP_011511170.1:p.Arg675Ter
XR_924835.1:n.583-9887G>A
NM_001354663.1:c.1762C>T NP_001341592.1:p.Arg588Ter
NM_001354664.1:c.1759C>T NP_001341593.1:p.Arg587Ter
XR_001740158.2:n.2550C>T
XR_001740159.2:n.2385C>T
XR_001741074.1:n.476-9887G>A
XR_924835.2:n.601-9887G>A
NM_001354663.2:c.1762C>T NP_001341592.1:p.Arg588Ter
NM_001354664.2:c.1759C>T NP_001341593.1:p.Arg587Ter
NM_130831.3:c.2023C>T NP_570844.1:p.Arg675Ter
NM_130832.3:c.2077C>T NP_570845.1:p.Arg693Ter
NM_130834.3:c.2185C>T NP_570847.2:p.Arg729Ter
NM_130836.3:c.2242C>T NP_570849.2:p.Arg748Ter
NM_015560.3:c.2131C>T NP_056375.2:p.Arg711Ter
NM_130833.3:c.2134C>T NP_570846.1:p.Arg712Ter
NM_130835.3:c.2188C>T NP_570848.1:p.Arg730Ter
NM_130837.3:c.2296C>T MANE Select NP_570850.2:p.Arg766Ter