Canonical Allele Identifier: CA355797860

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2994343
• ClinVar RCV Id: RCV003855982
• dbSNP Id: rs2109278084
• gnomAD v4: 3-193667269-C-T
• MyVariant Identifiers: chr3:g.193385058C>T (hg19) ; chr3:g.193667269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667269C>T , CM000665.2:g.193667269C>T	GRCh38
NC_000003.11:g.193385058C>T , CM000665.1:g.193385058C>T	GRCh37
NC_000003.10:g.194867752C>T	NCBI36
NG_011605.1:g.79126C>T , LRG_337:g.79126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2972C>T MANE Select	ENSP00000355324.2:p.Ala991Val
ENST00000361828.7:c.2807C>T	ENSP00000354429.3:p.Ala936Val
ENST00000361908.8:c.2918C>T	ENSP00000354681.3:p.Ala973Val
ENST00000392436.7:c.2807C>T	ENSP00000376231.3:p.Ala936Val
ENST00000392437.6:c.2861C>T	ENSP00000376232.2:p.Ala954Val
ENST00000642289.1:c.2746C>T
ENST00000642445.1:c.2807C>T	ENSP00000495535.1:p.Ala936Val
ENST00000642593.1:c.*1032C>T	ENSP00000494273.1:n.*1032C>T
ENST00000643329.1:c.2489C>T	ENSP00000493673.1:p.Ala830Val
ENST00000643737.1:c.*2888C>T	ENSP00000494210.1:n.*2888C>T
ENST00000644595.1:c.2807C>T	ENSP00000494121.1:p.Ala936Val
ENST00000644629.1:c.2394C>T
ENST00000644841.1:c.*1291C>T	ENSP00000493988.1:n.*1291C>T
ENST00000644959.1:c.2801C>T
ENST00000645553.1:c.2822C>T	ENSP00000494725.1:p.Ala941Val
ENST00000646085.1:c.*2285C>T	ENSP00000494509.1:n.*2285C>T
ENST00000646277.1:c.*1408C>T	ENSP00000495289.1:n.*1408C>T
ENST00000646544.1:c.1795C>T
ENST00000646699.1:c.2746C>T
ENST00000646793.1:c.2699C>T	ENSP00000494512.1:p.Ala900Val
ENST00000361150.6:c.2810C>T	ENSP00000354781.2:p.Ala937Val
ENST00000361510.6:c.2972C>T	ENSP00000355324.2:p.Ala991Val
ENST00000361715.6:c.2864C>T	ENSP00000355311.2:p.Ala955Val
ENST00000361828.6:c.2861C>T	ENSP00000354429.2:p.Ala954Val
ENST00000361908.7:c.2918C>T	ENSP00000354681.3:p.Ala973Val
ENST00000392438.7:c.2807C>T	ENSP00000376233.3:p.Ala936Val
ENST00000429164.1:c.94C>T
ENST00000445863.1:c.383C>T	ENSP00000398358.1:p.Ala128Val
NM_015560.2:c.2807C>T , LRG_337t1:c.2807C>T	NP_056375.2:p.Ala936Val
NM_130831.2:c.2699C>T	NP_570844.1:p.Ala900Val
NM_130832.2:c.2753C>T	NP_570845.1:p.Ala918Val
NM_130833.2:c.2810C>T	NP_570846.1:p.Ala937Val
NM_130834.2:c.2861C>T	NP_570847.2:p.Ala954Val
NM_130835.2:c.2864C>T	NP_570848.1:p.Ala955Val
NM_130836.2:c.2918C>T	NP_570849.2:p.Ala973Val
NM_130837.2:c.2972C>T , LRG_337t2:c.2972C>T	NP_570850.2:p.Ala991Val
XM_011512863.1:c.2972C>T	XP_011511165.1:p.Ala991Val
XM_011512864.1:c.2918C>T	XP_011511166.1:p.Ala973Val
XM_011512865.1:c.2861C>T	XP_011511167.1:p.Ala954Val
XM_011512866.1:c.2810C>T	XP_011511168.1:p.Ala937Val
XM_011512867.1:c.2807C>T	XP_011511169.1:p.Ala936Val
XM_011512868.1:c.2699C>T	XP_011511170.1:p.Ala900Val
XR_924835.1:n.582+1651G>A
NM_001354663.1:c.2438C>T	NP_001341592.1:p.Ala813Val
NM_001354664.1:c.2435C>T	NP_001341593.1:p.Ala812Val
XR_001740158.2:n.3226C>T
XR_001740159.2:n.3061C>T
XR_001741072.1:n.600+1651G>A
XR_001741074.1:n.475+3539G>A
XR_924835.2:n.600+1651G>A
NM_001354663.2:c.2438C>T	NP_001341592.1:p.Ala813Val
NM_001354664.2:c.2435C>T	NP_001341593.1:p.Ala812Val
NM_130831.3:c.2699C>T	NP_570844.1:p.Ala900Val
NM_130832.3:c.2753C>T	NP_570845.1:p.Ala918Val
NM_130834.3:c.2861C>T	NP_570847.2:p.Ala954Val
NM_130836.3:c.2918C>T	NP_570849.2:p.Ala973Val
NM_015560.3:c.2807C>T	NP_056375.2:p.Ala936Val
NM_130833.3:c.2810C>T	NP_570846.1:p.Ala937Val
NM_130835.3:c.2864C>T	NP_570848.1:p.Ala955Val
NM_130837.3:c.2972C>T MANE Select	NP_570850.2:p.Ala991Val