Canonical Allele Identifier: CA437441973

Gene: OPA1

Linked Data

• dbSNP Id: rs1299149287
• gnomAD v2: 3-193385011-T-C
• gnomAD v4: 3-193667222-T-C
• MyVariant Identifiers: chr3:g.193385011T>C (hg19) ; chr3:g.193667222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667222T>C , CM000665.2:g.193667222T>C	GRCh38
NC_000003.11:g.193385011T>C , CM000665.1:g.193385011T>C	GRCh37
NC_000003.10:g.194867705T>C	NCBI36
NG_011605.1:g.79079T>C , LRG_337:g.79079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2925T>C MANE Select	ENSP00000355324.2:p.Asp975=
ENST00000361828.7:c.2760T>C	ENSP00000354429.3:p.Asp920=
ENST00000361908.8:c.2871T>C	ENSP00000354681.3:p.Asp957=
ENST00000392436.7:c.2760T>C	ENSP00000376231.3:p.Asp920=
ENST00000392437.6:c.2814T>C	ENSP00000376232.2:p.Asp938=
ENST00000642289.1:c.2699T>C
ENST00000642445.1:c.2760T>C	ENSP00000495535.1:p.Asp920=
ENST00000642593.1:c.*985T>C	ENSP00000494273.1:n.*985T>C
ENST00000643329.1:c.2442T>C	ENSP00000493673.1:p.Asp814=
ENST00000643737.1:c.*2841T>C	ENSP00000494210.1:n.*2841T>C
ENST00000644595.1:c.2760T>C	ENSP00000494121.1:p.Asp920=
ENST00000644629.1:c.2347T>C
ENST00000644841.1:c.*1244T>C	ENSP00000493988.1:n.*1244T>C
ENST00000644959.1:c.2754T>C
ENST00000645553.1:c.2775T>C	ENSP00000494725.1:p.Asp925=
ENST00000646085.1:c.*2238T>C	ENSP00000494509.1:n.*2238T>C
ENST00000646277.1:c.*1361T>C	ENSP00000495289.1:n.*1361T>C
ENST00000646544.1:c.1748T>C
ENST00000646699.1:c.2699T>C
ENST00000646793.1:c.2652T>C	ENSP00000494512.1:p.Asp884=
ENST00000361150.6:c.2763T>C	ENSP00000354781.2:p.Asp921=
ENST00000361510.6:c.2925T>C	ENSP00000355324.2:p.Asp975=
ENST00000361715.6:c.2817T>C	ENSP00000355311.2:p.Asp939=
ENST00000361828.6:c.2814T>C	ENSP00000354429.2:p.Asp938=
ENST00000361908.7:c.2871T>C	ENSP00000354681.3:p.Asp957=
ENST00000392438.7:c.2760T>C	ENSP00000376233.3:p.Asp920=
ENST00000429164.1:c.47T>C
ENST00000445863.1:c.336T>C	ENSP00000398358.1:p.Asp112=
NM_015560.2:c.2760T>C , LRG_337t1:c.2760T>C	NP_056375.2:p.Asp920=
NM_130831.2:c.2652T>C	NP_570844.1:p.Asp884=
NM_130832.2:c.2706T>C	NP_570845.1:p.Asp902=
NM_130833.2:c.2763T>C	NP_570846.1:p.Asp921=
NM_130834.2:c.2814T>C	NP_570847.2:p.Asp938=
NM_130835.2:c.2817T>C	NP_570848.1:p.Asp939=
NM_130836.2:c.2871T>C	NP_570849.2:p.Asp957=
NM_130837.2:c.2925T>C , LRG_337t2:c.2925T>C	NP_570850.2:p.Asp975=
XM_011512863.1:c.2925T>C	XP_011511165.1:p.Asp975=
XM_011512864.1:c.2871T>C	XP_011511166.1:p.Asp957=
XM_011512865.1:c.2814T>C	XP_011511167.1:p.Asp938=
XM_011512866.1:c.2763T>C	XP_011511168.1:p.Asp921=
XM_011512867.1:c.2760T>C	XP_011511169.1:p.Asp920=
XM_011512868.1:c.2652T>C	XP_011511170.1:p.Asp884=
XR_924835.1:n.582+1698A>G
NM_001354663.1:c.2391T>C	NP_001341592.1:p.Asp797=
NM_001354664.1:c.2388T>C	NP_001341593.1:p.Asp796=
XR_001740158.2:n.3179T>C
XR_001740159.2:n.3014T>C
XR_001741072.1:n.600+1698A>G
XR_001741074.1:n.475+3586A>G
XR_924835.2:n.600+1698A>G
NM_001354663.2:c.2391T>C	NP_001341592.1:p.Asp797=
NM_001354664.2:c.2388T>C	NP_001341593.1:p.Asp796=
NM_130831.3:c.2652T>C	NP_570844.1:p.Asp884=
NM_130832.3:c.2706T>C	NP_570845.1:p.Asp902=
NM_130834.3:c.2814T>C	NP_570847.2:p.Asp938=
NM_130836.3:c.2871T>C	NP_570849.2:p.Asp957=
NM_015560.3:c.2760T>C	NP_056375.2:p.Asp920=
NM_130833.3:c.2763T>C	NP_570846.1:p.Asp921=
NM_130835.3:c.2817T>C	NP_570848.1:p.Asp939=
NM_130837.3:c.2925T>C MANE Select	NP_570850.2:p.Asp975=