Canonical Allele Identifier: CA355793204

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380696T>A (hg19) ; chr3:g.193662907T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662907T>A , CM000665.2:g.193662907T>A	GRCh38
NC_000003.11:g.193380696T>A , CM000665.1:g.193380696T>A	GRCh37
NC_000003.10:g.194863390T>A	NCBI36
NG_011605.1:g.74764T>A , LRG_337:g.74764T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2606T>A MANE Select	ENSP00000355324.2:p.Ile869Lys
ENST00000361828.7:c.2441T>A	ENSP00000354429.3:p.Ile814Lys
ENST00000361908.8:c.2552T>A	ENSP00000354681.3:p.Ile851Lys
ENST00000392436.7:c.2441T>A	ENSP00000376231.3:p.Ile814Lys
ENST00000392437.6:c.2495T>A	ENSP00000376232.2:p.Ile832Lys
ENST00000642289.1:c.2380T>A
ENST00000642445.1:c.2441T>A	ENSP00000495535.1:p.Ile814Lys
ENST00000642593.1:c.*666T>A	ENSP00000494273.1:n.*666T>A
ENST00000643329.1:c.2123T>A	ENSP00000493673.1:p.Ile708Lys
ENST00000643737.1:c.*2522T>A	ENSP00000494210.1:n.*2522T>A
ENST00000644595.1:c.2441T>A	ENSP00000494121.1:p.Ile814Lys
ENST00000644629.1:c.2028T>A
ENST00000644841.1:c.*925T>A	ENSP00000493988.1:n.*925T>A
ENST00000644959.1:c.2435T>A
ENST00000645553.1:c.2456T>A	ENSP00000494725.1:p.Ile819Lys
ENST00000646085.1:c.*1919T>A	ENSP00000494509.1:n.*1919T>A
ENST00000646277.1:c.*1042T>A	ENSP00000495289.1:n.*1042T>A
ENST00000646544.1:c.1429T>A
ENST00000646699.1:c.2380T>A
ENST00000646793.1:c.2333T>A	ENSP00000494512.1:p.Ile778Lys
ENST00000361150.6:c.2444T>A	ENSP00000354781.2:p.Ile815Lys
ENST00000361510.6:c.2606T>A	ENSP00000355324.2:p.Ile869Lys
ENST00000361715.6:c.2498T>A	ENSP00000355311.2:p.Ile833Lys
ENST00000361828.6:c.2495T>A	ENSP00000354429.2:p.Ile832Lys
ENST00000361908.7:c.2552T>A	ENSP00000354681.3:p.Ile851Lys
ENST00000392438.7:c.2441T>A	ENSP00000376233.3:p.Ile814Lys
ENST00000445863.1:c.17T>A	ENSP00000398358.1:p.Ile6Lys
NM_015560.2:c.2441T>A , LRG_337t1:c.2441T>A	NP_056375.2:p.Ile814Lys
NM_130831.2:c.2333T>A	NP_570844.1:p.Ile778Lys
NM_130832.2:c.2387T>A	NP_570845.1:p.Ile796Lys
NM_130833.2:c.2444T>A	NP_570846.1:p.Ile815Lys
NM_130834.2:c.2495T>A	NP_570847.2:p.Ile832Lys
NM_130835.2:c.2498T>A	NP_570848.1:p.Ile833Lys
NM_130836.2:c.2552T>A	NP_570849.2:p.Ile851Lys
NM_130837.2:c.2606T>A , LRG_337t2:c.2606T>A	NP_570850.2:p.Ile869Lys
XM_011512863.1:c.2606T>A	XP_011511165.1:p.Ile869Lys
XM_011512864.1:c.2552T>A	XP_011511166.1:p.Ile851Lys
XM_011512865.1:c.2495T>A	XP_011511167.1:p.Ile832Lys
XM_011512866.1:c.2444T>A	XP_011511168.1:p.Ile815Lys
XM_011512867.1:c.2441T>A	XP_011511169.1:p.Ile814Lys
XM_011512868.1:c.2333T>A	XP_011511170.1:p.Ile778Lys
XR_924835.1:n.582+6013A>T
NM_001354663.1:c.2072T>A	NP_001341592.1:p.Ile691Lys
NM_001354664.1:c.2069T>A	NP_001341593.1:p.Ile690Lys
XR_001740158.2:n.2860T>A
XR_001740159.2:n.2695T>A
XR_001741072.1:n.601-2822A>T
XR_001741074.1:n.475+7901A>T
XR_924835.2:n.600+6013A>T
NM_001354663.2:c.2072T>A	NP_001341592.1:p.Ile691Lys
NM_001354664.2:c.2069T>A	NP_001341593.1:p.Ile690Lys
NM_130831.3:c.2333T>A	NP_570844.1:p.Ile778Lys
NM_130832.3:c.2387T>A	NP_570845.1:p.Ile796Lys
NM_130834.3:c.2495T>A	NP_570847.2:p.Ile832Lys
NM_130836.3:c.2552T>A	NP_570849.2:p.Ile851Lys
NM_015560.3:c.2441T>A	NP_056375.2:p.Ile814Lys
NM_130833.3:c.2444T>A	NP_570846.1:p.Ile815Lys
NM_130835.3:c.2498T>A	NP_570848.1:p.Ile833Lys
NM_130837.3:c.2606T>A MANE Select	NP_570850.2:p.Ile869Lys