Canonical Allele Identifier: CA2759701

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2060524
• ClinVar RCV Id: RCV002947785
• dbSNP Id: rs777863747
• ExAC: 3:193380683 G / A
• gnomAD v2: 3-193380683-G-A
• gnomAD v4: 3-193662894-G-A
• MyVariant Identifiers: chr3:g.193380683G>A (hg19) ; chr3:g.193662894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662894G>A , CM000665.2:g.193662894G>A	GRCh38
NC_000003.11:g.193380683G>A , CM000665.1:g.193380683G>A	GRCh37
NC_000003.10:g.194863377G>A	NCBI36
NG_011605.1:g.74751G>A , LRG_337:g.74751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2593G>A MANE Select	ENSP00000355324.2:p.Ala865Thr
ENST00000361828.7:c.2428G>A	ENSP00000354429.3:p.Ala810Thr
ENST00000361908.8:c.2539G>A	ENSP00000354681.3:p.Ala847Thr
ENST00000392436.7:c.2428G>A	ENSP00000376231.3:p.Ala810Thr
ENST00000392437.6:c.2482G>A	ENSP00000376232.2:p.Ala828Thr
ENST00000642289.1:c.2367G>A
ENST00000642445.1:c.2428G>A	ENSP00000495535.1:p.Ala810Thr
ENST00000642593.1:c.*653G>A	ENSP00000494273.1:n.*653G>A
ENST00000643329.1:c.2110G>A	ENSP00000493673.1:p.Ala704Thr
ENST00000643737.1:c.*2509G>A	ENSP00000494210.1:n.*2509G>A
ENST00000644595.1:c.2428G>A	ENSP00000494121.1:p.Ala810Thr
ENST00000644629.1:c.2015G>A
ENST00000644841.1:c.*912G>A	ENSP00000493988.1:n.*912G>A
ENST00000644959.1:c.2422G>A
ENST00000645553.1:c.2443G>A	ENSP00000494725.1:p.Ala815Thr
ENST00000646085.1:c.*1906G>A	ENSP00000494509.1:n.*1906G>A
ENST00000646277.1:c.*1029G>A	ENSP00000495289.1:n.*1029G>A
ENST00000646544.1:c.1416G>A
ENST00000646699.1:c.2367G>A
ENST00000646793.1:c.2320G>A	ENSP00000494512.1:p.Ala774Thr
ENST00000361150.6:c.2431G>A	ENSP00000354781.2:p.Ala811Thr
ENST00000361510.6:c.2593G>A	ENSP00000355324.2:p.Ala865Thr
ENST00000361715.6:c.2485G>A	ENSP00000355311.2:p.Ala829Thr
ENST00000361828.6:c.2482G>A	ENSP00000354429.2:p.Ala828Thr
ENST00000361908.7:c.2539G>A	ENSP00000354681.3:p.Ala847Thr
ENST00000392438.7:c.2428G>A	ENSP00000376233.3:p.Ala810Thr
ENST00000445863.1:c.4G>A	ENSP00000398358.1:p.Ala2Thr
NM_015560.2:c.2428G>A , LRG_337t1:c.2428G>A	NP_056375.2:p.Ala810Thr
NM_130831.2:c.2320G>A	NP_570844.1:p.Ala774Thr
NM_130832.2:c.2374G>A	NP_570845.1:p.Ala792Thr
NM_130833.2:c.2431G>A	NP_570846.1:p.Ala811Thr
NM_130834.2:c.2482G>A	NP_570847.2:p.Ala828Thr
NM_130835.2:c.2485G>A	NP_570848.1:p.Ala829Thr
NM_130836.2:c.2539G>A	NP_570849.2:p.Ala847Thr
NM_130837.2:c.2593G>A , LRG_337t2:c.2593G>A	NP_570850.2:p.Ala865Thr
XM_011512863.1:c.2593G>A	XP_011511165.1:p.Ala865Thr
XM_011512864.1:c.2539G>A	XP_011511166.1:p.Ala847Thr
XM_011512865.1:c.2482G>A	XP_011511167.1:p.Ala828Thr
XM_011512866.1:c.2431G>A	XP_011511168.1:p.Ala811Thr
XM_011512867.1:c.2428G>A	XP_011511169.1:p.Ala810Thr
XM_011512868.1:c.2320G>A	XP_011511170.1:p.Ala774Thr
XR_924835.1:n.582+6026C>T
NM_001354663.1:c.2059G>A	NP_001341592.1:p.Ala687Thr
NM_001354664.1:c.2056G>A	NP_001341593.1:p.Ala686Thr
XR_001740158.2:n.2847G>A
XR_001740159.2:n.2682G>A
XR_001741072.1:n.601-2809C>T
XR_001741074.1:n.475+7914C>T
XR_924835.2:n.600+6026C>T
NM_001354663.2:c.2059G>A	NP_001341592.1:p.Ala687Thr
NM_001354664.2:c.2056G>A	NP_001341593.1:p.Ala686Thr
NM_130831.3:c.2320G>A	NP_570844.1:p.Ala774Thr
NM_130832.3:c.2374G>A	NP_570845.1:p.Ala792Thr
NM_130834.3:c.2482G>A	NP_570847.2:p.Ala828Thr
NM_130836.3:c.2539G>A	NP_570849.2:p.Ala847Thr
NM_015560.3:c.2428G>A	NP_056375.2:p.Ala810Thr
NM_130833.3:c.2431G>A	NP_570846.1:p.Ala811Thr
NM_130835.3:c.2485G>A	NP_570848.1:p.Ala829Thr
NM_130837.3:c.2593G>A MANE Select	NP_570850.2:p.Ala865Thr