Canonical Allele Identifier: CA355793352

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380749T>G (hg19) ; chr3:g.193662960T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662960T>G , CM000665.2:g.193662960T>G	GRCh38
NC_000003.11:g.193380749T>G , CM000665.1:g.193380749T>G	GRCh37
NC_000003.10:g.194863443T>G	NCBI36
NG_011605.1:g.74817T>G , LRG_337:g.74817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2659T>G MANE Select	ENSP00000355324.2:p.Leu887Val
ENST00000361828.7:c.2494T>G	ENSP00000354429.3:p.Leu832Val
ENST00000361908.8:c.2605T>G	ENSP00000354681.3:p.Leu869Val
ENST00000392436.7:c.2494T>G	ENSP00000376231.3:p.Leu832Val
ENST00000392437.6:c.2548T>G	ENSP00000376232.2:p.Leu850Val
ENST00000642289.1:c.2433T>G
ENST00000642445.1:c.2494T>G	ENSP00000495535.1:p.Leu832Val
ENST00000642593.1:c.*719T>G	ENSP00000494273.1:n.*719T>G
ENST00000643329.1:c.2176T>G	ENSP00000493673.1:p.Leu726Val
ENST00000643737.1:c.*2575T>G	ENSP00000494210.1:n.*2575T>G
ENST00000644595.1:c.2494T>G	ENSP00000494121.1:p.Leu832Val
ENST00000644629.1:c.2081T>G
ENST00000644841.1:c.*978T>G	ENSP00000493988.1:n.*978T>G
ENST00000644959.1:c.2488T>G
ENST00000645553.1:c.2509T>G	ENSP00000494725.1:p.Leu837Val
ENST00000646085.1:c.*1972T>G	ENSP00000494509.1:n.*1972T>G
ENST00000646277.1:c.*1095T>G	ENSP00000495289.1:n.*1095T>G
ENST00000646544.1:c.1482T>G
ENST00000646699.1:c.2433T>G
ENST00000646793.1:c.2386T>G	ENSP00000494512.1:p.Leu796Val
ENST00000361150.6:c.2497T>G	ENSP00000354781.2:p.Leu833Val
ENST00000361510.6:c.2659T>G	ENSP00000355324.2:p.Leu887Val
ENST00000361715.6:c.2551T>G	ENSP00000355311.2:p.Leu851Val
ENST00000361828.6:c.2548T>G	ENSP00000354429.2:p.Leu850Val
ENST00000361908.7:c.2605T>G	ENSP00000354681.3:p.Leu869Val
ENST00000392438.7:c.2494T>G	ENSP00000376233.3:p.Leu832Val
ENST00000445863.1:c.70T>G	ENSP00000398358.1:p.Leu24Val
NM_015560.2:c.2494T>G , LRG_337t1:c.2494T>G	NP_056375.2:p.Leu832Val
NM_130831.2:c.2386T>G	NP_570844.1:p.Leu796Val
NM_130832.2:c.2440T>G	NP_570845.1:p.Leu814Val
NM_130833.2:c.2497T>G	NP_570846.1:p.Leu833Val
NM_130834.2:c.2548T>G	NP_570847.2:p.Leu850Val
NM_130835.2:c.2551T>G	NP_570848.1:p.Leu851Val
NM_130836.2:c.2605T>G	NP_570849.2:p.Leu869Val
NM_130837.2:c.2659T>G , LRG_337t2:c.2659T>G	NP_570850.2:p.Leu887Val
XM_011512863.1:c.2659T>G	XP_011511165.1:p.Leu887Val
XM_011512864.1:c.2605T>G	XP_011511166.1:p.Leu869Val
XM_011512865.1:c.2548T>G	XP_011511167.1:p.Leu850Val
XM_011512866.1:c.2497T>G	XP_011511168.1:p.Leu833Val
XM_011512867.1:c.2494T>G	XP_011511169.1:p.Leu832Val
XM_011512868.1:c.2386T>G	XP_011511170.1:p.Leu796Val
XR_924835.1:n.582+5960A>C
NM_001354663.1:c.2125T>G	NP_001341592.1:p.Leu709Val
NM_001354664.1:c.2122T>G	NP_001341593.1:p.Leu708Val
XR_001740158.2:n.2913T>G
XR_001740159.2:n.2748T>G
XR_001741072.1:n.601-2875A>C
XR_001741074.1:n.475+7848A>C
XR_924835.2:n.600+5960A>C
NM_001354663.2:c.2125T>G	NP_001341592.1:p.Leu709Val
NM_001354664.2:c.2122T>G	NP_001341593.1:p.Leu708Val
NM_130831.3:c.2386T>G	NP_570844.1:p.Leu796Val
NM_130832.3:c.2440T>G	NP_570845.1:p.Leu814Val
NM_130834.3:c.2548T>G	NP_570847.2:p.Leu850Val
NM_130836.3:c.2605T>G	NP_570849.2:p.Leu869Val
NM_015560.3:c.2494T>G	NP_056375.2:p.Leu832Val
NM_130833.3:c.2497T>G	NP_570846.1:p.Leu833Val
NM_130835.3:c.2551T>G	NP_570848.1:p.Leu851Val
NM_130837.3:c.2659T>G MANE Select	NP_570850.2:p.Leu887Val