Canonical Allele Identifier: CA355788168

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2010552
• ClinVar RCV Id: RCV002834068
• MyVariant Identifiers: chr3:g.193355754G>T (hg19) ; chr3:g.193637965G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637965G>T , CM000665.2:g.193637965G>T	GRCh38
NC_000003.11:g.193355754G>T , CM000665.1:g.193355754G>T	GRCh37
NC_000003.10:g.194838448G>T	NCBI36
NG_011605.1:g.49822G>T , LRG_337:g.49822G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1049G>T MANE Select	ENSP00000355324.2:p.Gly350Val
ENST00000361828.7:c.884G>T	ENSP00000354429.3:p.Gly295Val
ENST00000361908.8:c.995G>T	ENSP00000354681.3:p.Gly332Val
ENST00000392436.7:c.884G>T	ENSP00000376231.3:p.Gly295Val
ENST00000392437.6:c.938G>T	ENSP00000376232.2:p.Gly313Val
ENST00000642289.1:c.979G>T
ENST00000642445.1:c.884G>T	ENSP00000495535.1:p.Gly295Val
ENST00000642593.1:c.884G>T	ENSP00000494273.1:p.Gly295Val
ENST00000643329.1:c.566G>T	ENSP00000493673.1:p.Gly189Val
ENST00000643737.1:c.*965G>T	ENSP00000494210.1:n.*965G>T
ENST00000644595.1:c.884G>T	ENSP00000494121.1:p.Gly295Val
ENST00000644629.1:c.544G>T
ENST00000644841.1:c.512G>T	ENSP00000493988.1:p.Gly171Val
ENST00000644959.1:c.853G>T
ENST00000645553.1:c.899G>T	ENSP00000494725.1:p.Gly300Val
ENST00000646085.1:c.*362G>T	ENSP00000494509.1:n.*362G>T
ENST00000646277.1:c.1049G>T	ENSP00000495289.1:p.Gly350Val
ENST00000646699.1:c.979G>T
ENST00000646793.1:c.776G>T	ENSP00000494512.1:p.Gly259Val
ENST00000361150.6:c.887G>T	ENSP00000354781.2:p.Gly296Val
ENST00000361510.6:c.1049G>T	ENSP00000355324.2:p.Gly350Val
ENST00000361715.6:c.941G>T	ENSP00000355311.2:p.Gly314Val
ENST00000361828.6:c.938G>T	ENSP00000354429.2:p.Gly313Val
ENST00000361908.7:c.995G>T	ENSP00000354681.3:p.Gly332Val
ENST00000392438.7:c.884G>T	ENSP00000376233.3:p.Gly295Val
ENST00000475899.1:n.80G>T
ENST00000495476.1:n.405G>T
ENST00000497189.5:n.370G>T
NM_015560.2:c.884G>T , LRG_337t1:c.884G>T	NP_056375.2:p.Gly295Val
NM_130831.2:c.776G>T	NP_570844.1:p.Gly259Val
NM_130832.2:c.830G>T	NP_570845.1:p.Gly277Val
NM_130833.2:c.887G>T	NP_570846.1:p.Gly296Val
NM_130834.2:c.938G>T	NP_570847.2:p.Gly313Val
NM_130835.2:c.941G>T	NP_570848.1:p.Gly314Val
NM_130836.2:c.995G>T	NP_570849.2:p.Gly332Val
NM_130837.2:c.1049G>T , LRG_337t2:c.1049G>T	NP_570850.2:p.Gly350Val
XM_011512863.1:c.1049G>T	XP_011511165.1:p.Gly350Val
XM_011512864.1:c.995G>T	XP_011511166.1:p.Gly332Val
XM_011512865.1:c.938G>T	XP_011511167.1:p.Gly313Val
XM_011512866.1:c.887G>T	XP_011511168.1:p.Gly296Val
XM_011512867.1:c.884G>T	XP_011511169.1:p.Gly295Val
XM_011512868.1:c.776G>T	XP_011511170.1:p.Gly259Val
XM_011512869.1:c.1049G>T	XP_011511171.1:p.Gly350Val
NM_001354663.1:c.515G>T	NP_001341592.1:p.Gly172Val
NM_001354664.1:c.512G>T	NP_001341593.1:p.Gly171Val
XR_001740158.2:n.1278G>T
XR_001740159.2:n.1113G>T
NM_001354663.2:c.515G>T	NP_001341592.1:p.Gly172Val
NM_001354664.2:c.512G>T	NP_001341593.1:p.Gly171Val
NM_130831.3:c.776G>T	NP_570844.1:p.Gly259Val
NM_130832.3:c.830G>T	NP_570845.1:p.Gly277Val
NM_130834.3:c.938G>T	NP_570847.2:p.Gly313Val
NM_130836.3:c.995G>T	NP_570849.2:p.Gly332Val
NM_015560.3:c.884G>T	NP_056375.2:p.Gly295Val
NM_130833.3:c.887G>T	NP_570846.1:p.Gly296Val
NM_130835.3:c.941G>T	NP_570848.1:p.Gly314Val
NM_130837.3:c.1049G>T MANE Select	NP_570850.2:p.Gly350Val