Canonical Allele Identifier: CA355793276

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2039883
• ClinVar RCV Id: RCV002886096
• gnomAD v4: 3-193662943-T-C
• MyVariant Identifiers: chr3:g.193380732T>C (hg19) ; chr3:g.193662943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662943T>C , CM000665.2:g.193662943T>C	GRCh38
NC_000003.11:g.193380732T>C , CM000665.1:g.193380732T>C	GRCh37
NC_000003.10:g.194863426T>C	NCBI36
NG_011605.1:g.74800T>C , LRG_337:g.74800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2642T>C MANE Select	ENSP00000355324.2:p.Val881Ala
ENST00000361828.7:c.2477T>C	ENSP00000354429.3:p.Val826Ala
ENST00000361908.8:c.2588T>C	ENSP00000354681.3:p.Val863Ala
ENST00000392436.7:c.2477T>C	ENSP00000376231.3:p.Val826Ala
ENST00000392437.6:c.2531T>C	ENSP00000376232.2:p.Val844Ala
ENST00000642289.1:c.2416T>C
ENST00000642445.1:c.2477T>C	ENSP00000495535.1:p.Val826Ala
ENST00000642593.1:c.*702T>C	ENSP00000494273.1:n.*702T>C
ENST00000643329.1:c.2159T>C	ENSP00000493673.1:p.Val720Ala
ENST00000643737.1:c.*2558T>C	ENSP00000494210.1:n.*2558T>C
ENST00000644595.1:c.2477T>C	ENSP00000494121.1:p.Val826Ala
ENST00000644629.1:c.2064T>C
ENST00000644841.1:c.*961T>C	ENSP00000493988.1:n.*961T>C
ENST00000644959.1:c.2471T>C
ENST00000645553.1:c.2492T>C	ENSP00000494725.1:p.Val831Ala
ENST00000646085.1:c.*1955T>C	ENSP00000494509.1:n.*1955T>C
ENST00000646277.1:c.*1078T>C	ENSP00000495289.1:n.*1078T>C
ENST00000646544.1:c.1465T>C
ENST00000646699.1:c.2416T>C
ENST00000646793.1:c.2369T>C	ENSP00000494512.1:p.Val790Ala
ENST00000361150.6:c.2480T>C	ENSP00000354781.2:p.Val827Ala
ENST00000361510.6:c.2642T>C	ENSP00000355324.2:p.Val881Ala
ENST00000361715.6:c.2534T>C	ENSP00000355311.2:p.Val845Ala
ENST00000361828.6:c.2531T>C	ENSP00000354429.2:p.Val844Ala
ENST00000361908.7:c.2588T>C	ENSP00000354681.3:p.Val863Ala
ENST00000392438.7:c.2477T>C	ENSP00000376233.3:p.Val826Ala
ENST00000445863.1:c.53T>C	ENSP00000398358.1:p.Val18Ala
NM_015560.2:c.2477T>C , LRG_337t1:c.2477T>C	NP_056375.2:p.Val826Ala
NM_130831.2:c.2369T>C	NP_570844.1:p.Val790Ala
NM_130832.2:c.2423T>C	NP_570845.1:p.Val808Ala
NM_130833.2:c.2480T>C	NP_570846.1:p.Val827Ala
NM_130834.2:c.2531T>C	NP_570847.2:p.Val844Ala
NM_130835.2:c.2534T>C	NP_570848.1:p.Val845Ala
NM_130836.2:c.2588T>C	NP_570849.2:p.Val863Ala
NM_130837.2:c.2642T>C , LRG_337t2:c.2642T>C	NP_570850.2:p.Val881Ala
XM_011512863.1:c.2642T>C	XP_011511165.1:p.Val881Ala
XM_011512864.1:c.2588T>C	XP_011511166.1:p.Val863Ala
XM_011512865.1:c.2531T>C	XP_011511167.1:p.Val844Ala
XM_011512866.1:c.2480T>C	XP_011511168.1:p.Val827Ala
XM_011512867.1:c.2477T>C	XP_011511169.1:p.Val826Ala
XM_011512868.1:c.2369T>C	XP_011511170.1:p.Val790Ala
XR_924835.1:n.582+5977A>G
NM_001354663.1:c.2108T>C	NP_001341592.1:p.Val703Ala
NM_001354664.1:c.2105T>C	NP_001341593.1:p.Val702Ala
XR_001740158.2:n.2896T>C
XR_001740159.2:n.2731T>C
XR_001741072.1:n.601-2858A>G
XR_001741074.1:n.475+7865A>G
XR_924835.2:n.600+5977A>G
NM_001354663.2:c.2108T>C	NP_001341592.1:p.Val703Ala
NM_001354664.2:c.2105T>C	NP_001341593.1:p.Val702Ala
NM_130831.3:c.2369T>C	NP_570844.1:p.Val790Ala
NM_130832.3:c.2423T>C	NP_570845.1:p.Val808Ala
NM_130834.3:c.2531T>C	NP_570847.2:p.Val844Ala
NM_130836.3:c.2588T>C	NP_570849.2:p.Val863Ala
NM_015560.3:c.2477T>C	NP_056375.2:p.Val826Ala
NM_130833.3:c.2480T>C	NP_570846.1:p.Val827Ala
NM_130835.3:c.2534T>C	NP_570848.1:p.Val845Ala
NM_130837.3:c.2642T>C MANE Select	NP_570850.2:p.Val881Ala