Canonical Allele Identifier: CA2759780

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1545213
• ClinVar RCV Id: RCV002165627
• dbSNP Id: rs759927322
• ExAC: 3:193384990 A / G
• gnomAD v2: 3-193384990-A-G
• gnomAD v3: 3-193667201-A-G
• gnomAD v4: 3-193667201-A-G
• MyVariant Identifiers: chr3:g.193384990A>G (hg19) ; chr3:g.193667201A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667201A>G , CM000665.2:g.193667201A>G	GRCh38
NC_000003.11:g.193384990A>G , CM000665.1:g.193384990A>G	GRCh37
NC_000003.10:g.194867684A>G	NCBI36
NG_011605.1:g.79058A>G , LRG_337:g.79058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2904A>G MANE Select	ENSP00000355324.2:p.Val968=
ENST00000361828.7:c.2739A>G	ENSP00000354429.3:p.Val913=
ENST00000361908.8:c.2850A>G	ENSP00000354681.3:p.Val950=
ENST00000392436.7:c.2739A>G	ENSP00000376231.3:p.Val913=
ENST00000392437.6:c.2793A>G	ENSP00000376232.2:p.Val931=
ENST00000642289.1:c.2678A>G
ENST00000642445.1:c.2739A>G	ENSP00000495535.1:p.Val913=
ENST00000642593.1:c.*964A>G	ENSP00000494273.1:n.*964A>G
ENST00000643329.1:c.2421A>G	ENSP00000493673.1:p.Val807=
ENST00000643737.1:c.*2820A>G	ENSP00000494210.1:n.*2820A>G
ENST00000644595.1:c.2739A>G	ENSP00000494121.1:p.Val913=
ENST00000644629.1:c.2326A>G
ENST00000644841.1:c.*1223A>G	ENSP00000493988.1:n.*1223A>G
ENST00000644959.1:c.2733A>G
ENST00000645553.1:c.2754A>G	ENSP00000494725.1:p.Val918=
ENST00000646085.1:c.*2217A>G	ENSP00000494509.1:n.*2217A>G
ENST00000646277.1:c.*1340A>G	ENSP00000495289.1:n.*1340A>G
ENST00000646544.1:c.1727A>G
ENST00000646699.1:c.2678A>G
ENST00000646793.1:c.2631A>G	ENSP00000494512.1:p.Val877=
ENST00000361150.6:c.2742A>G	ENSP00000354781.2:p.Val914=
ENST00000361510.6:c.2904A>G	ENSP00000355324.2:p.Val968=
ENST00000361715.6:c.2796A>G	ENSP00000355311.2:p.Val932=
ENST00000361828.6:c.2793A>G	ENSP00000354429.2:p.Val931=
ENST00000361908.7:c.2850A>G	ENSP00000354681.3:p.Val950=
ENST00000392438.7:c.2739A>G	ENSP00000376233.3:p.Val913=
ENST00000429164.1:c.26A>G
ENST00000445863.1:c.315A>G	ENSP00000398358.1:p.Val105=
NM_015560.2:c.2739A>G , LRG_337t1:c.2739A>G	NP_056375.2:p.Val913=
NM_130831.2:c.2631A>G	NP_570844.1:p.Val877=
NM_130832.2:c.2685A>G	NP_570845.1:p.Val895=
NM_130833.2:c.2742A>G	NP_570846.1:p.Val914=
NM_130834.2:c.2793A>G	NP_570847.2:p.Val931=
NM_130835.2:c.2796A>G	NP_570848.1:p.Val932=
NM_130836.2:c.2850A>G	NP_570849.2:p.Val950=
NM_130837.2:c.2904A>G , LRG_337t2:c.2904A>G	NP_570850.2:p.Val968=
XM_011512863.1:c.2904A>G	XP_011511165.1:p.Val968=
XM_011512864.1:c.2850A>G	XP_011511166.1:p.Val950=
XM_011512865.1:c.2793A>G	XP_011511167.1:p.Val931=
XM_011512866.1:c.2742A>G	XP_011511168.1:p.Val914=
XM_011512867.1:c.2739A>G	XP_011511169.1:p.Val913=
XM_011512868.1:c.2631A>G	XP_011511170.1:p.Val877=
XR_924835.1:n.582+1719T>C
NM_001354663.1:c.2370A>G	NP_001341592.1:p.Val790=
NM_001354664.1:c.2367A>G	NP_001341593.1:p.Val789=
XR_001740158.2:n.3158A>G
XR_001740159.2:n.2993A>G
XR_001741072.1:n.600+1719T>C
XR_001741074.1:n.475+3607T>C
XR_924835.2:n.600+1719T>C
NM_001354663.2:c.2370A>G	NP_001341592.1:p.Val790=
NM_001354664.2:c.2367A>G	NP_001341593.1:p.Val789=
NM_130831.3:c.2631A>G	NP_570844.1:p.Val877=
NM_130832.3:c.2685A>G	NP_570845.1:p.Val895=
NM_130834.3:c.2793A>G	NP_570847.2:p.Val931=
NM_130836.3:c.2850A>G	NP_570849.2:p.Val950=
NM_015560.3:c.2739A>G	NP_056375.2:p.Val913=
NM_130833.3:c.2742A>G	NP_570846.1:p.Val914=
NM_130835.3:c.2796A>G	NP_570848.1:p.Val932=
NM_130837.3:c.2904A>G MANE Select	NP_570850.2:p.Val968=