Canonical Allele Identifier: CA90551279

Gene: OPA1

Linked Data

• dbSNP Id: rs1018698828
• gnomAD v2: 3-193377313-A-G
• gnomAD v4: 3-193659524-A-G
• MyVariant Identifiers: chr3:g.193377313A>G (hg19) ; chr3:g.193659524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659524A>G , CM000665.2:g.193659524A>G	GRCh38
NC_000003.11:g.193377313A>G , CM000665.1:g.193377313A>G	GRCh37
NC_000003.10:g.194860007A>G	NCBI36
NG_011605.1:g.71381A>G , LRG_337:g.71381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2483A>G MANE Select	ENSP00000355324.2:p.Lys828Arg
ENST00000361828.7:c.2318A>G	ENSP00000354429.3:p.Lys773Arg
ENST00000361908.8:c.2429A>G	ENSP00000354681.3:p.Lys810Arg
ENST00000392436.7:c.2318A>G	ENSP00000376231.3:p.Lys773Arg
ENST00000392437.6:c.2372A>G	ENSP00000376232.2:p.Lys791Arg
ENST00000642289.1:c.2257A>G
ENST00000642445.1:c.2318A>G	ENSP00000495535.1:p.Lys773Arg
ENST00000642593.1:c.*543A>G	ENSP00000494273.1:n.*543A>G
ENST00000643329.1:c.2000A>G	ENSP00000493673.1:p.Lys667Arg
ENST00000643737.1:c.*2399A>G	ENSP00000494210.1:n.*2399A>G
ENST00000644595.1:c.2318A>G	ENSP00000494121.1:p.Lys773Arg
ENST00000644629.1:c.1905A>G
ENST00000644841.1:c.*802A>G	ENSP00000493988.1:n.*802A>G
ENST00000644959.1:c.2312A>G
ENST00000645553.1:c.2333A>G	ENSP00000494725.1:p.Lys778Arg
ENST00000646085.1:c.*1796A>G	ENSP00000494509.1:n.*1796A>G
ENST00000646277.1:c.*919A>G	ENSP00000495289.1:n.*919A>G
ENST00000646544.1:c.1306A>G
ENST00000646699.1:c.2257A>G
ENST00000646793.1:c.2210A>G	ENSP00000494512.1:p.Lys737Arg
ENST00000361150.6:c.2321A>G	ENSP00000354781.2:p.Lys774Arg
ENST00000361510.6:c.2483A>G	ENSP00000355324.2:p.Lys828Arg
ENST00000361715.6:c.2375A>G	ENSP00000355311.2:p.Lys792Arg
ENST00000361828.6:c.2372A>G	ENSP00000354429.2:p.Lys791Arg
ENST00000361908.7:c.2429A>G	ENSP00000354681.3:p.Lys810Arg
ENST00000392438.7:c.2318A>G	ENSP00000376233.3:p.Lys773Arg
NM_015560.2:c.2318A>G , LRG_337t1:c.2318A>G	NP_056375.2:p.Lys773Arg
NM_130831.2:c.2210A>G	NP_570844.1:p.Lys737Arg
NM_130832.2:c.2264A>G	NP_570845.1:p.Lys755Arg
NM_130833.2:c.2321A>G	NP_570846.1:p.Lys774Arg
NM_130834.2:c.2372A>G	NP_570847.2:p.Lys791Arg
NM_130835.2:c.2375A>G	NP_570848.1:p.Lys792Arg
NM_130836.2:c.2429A>G	NP_570849.2:p.Lys810Arg
NM_130837.2:c.2483A>G , LRG_337t2:c.2483A>G	NP_570850.2:p.Lys828Arg
XM_011512863.1:c.2483A>G	XP_011511165.1:p.Lys828Arg
XM_011512864.1:c.2429A>G	XP_011511166.1:p.Lys810Arg
XM_011512865.1:c.2372A>G	XP_011511167.1:p.Lys791Arg
XM_011512866.1:c.2321A>G	XP_011511168.1:p.Lys774Arg
XM_011512867.1:c.2318A>G	XP_011511169.1:p.Lys773Arg
XM_011512868.1:c.2210A>G	XP_011511170.1:p.Lys737Arg
XR_924835.1:n.582+9396T>C
NM_001354663.1:c.1949A>G	NP_001341592.1:p.Lys650Arg
NM_001354664.1:c.1946A>G	NP_001341593.1:p.Lys649Arg
XR_001740158.2:n.2737A>G
XR_001740159.2:n.2572A>G
XR_001741074.1:n.475+11284T>C
XR_924835.2:n.600+9396T>C
NM_001354663.2:c.1949A>G	NP_001341592.1:p.Lys650Arg
NM_001354664.2:c.1946A>G	NP_001341593.1:p.Lys649Arg
NM_130831.3:c.2210A>G	NP_570844.1:p.Lys737Arg
NM_130832.3:c.2264A>G	NP_570845.1:p.Lys755Arg
NM_130834.3:c.2372A>G	NP_570847.2:p.Lys791Arg
NM_130836.3:c.2429A>G	NP_570849.2:p.Lys810Arg
NM_015560.3:c.2318A>G	NP_056375.2:p.Lys773Arg
NM_130833.3:c.2321A>G	NP_570846.1:p.Lys774Arg
NM_130835.3:c.2375A>G	NP_570848.1:p.Lys792Arg
NM_130837.3:c.2483A>G MANE Select	NP_570850.2:p.Lys828Arg