Canonical Allele Identifier: CA355793298

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380738T>A (hg19) ; chr3:g.193662949T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662949T>A , CM000665.2:g.193662949T>A	GRCh38
NC_000003.11:g.193380738T>A , CM000665.1:g.193380738T>A	GRCh37
NC_000003.10:g.194863432T>A	NCBI36
NG_011605.1:g.74806T>A , LRG_337:g.74806T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2648T>A MANE Select	ENSP00000355324.2:p.Val883Glu
ENST00000361828.7:c.2483T>A	ENSP00000354429.3:p.Val828Glu
ENST00000361908.8:c.2594T>A	ENSP00000354681.3:p.Val865Glu
ENST00000392436.7:c.2483T>A	ENSP00000376231.3:p.Val828Glu
ENST00000392437.6:c.2537T>A	ENSP00000376232.2:p.Val846Glu
ENST00000642289.1:c.2422T>A
ENST00000642445.1:c.2483T>A	ENSP00000495535.1:p.Val828Glu
ENST00000642593.1:c.*708T>A	ENSP00000494273.1:n.*708T>A
ENST00000643329.1:c.2165T>A	ENSP00000493673.1:p.Val722Glu
ENST00000643737.1:c.*2564T>A	ENSP00000494210.1:n.*2564T>A
ENST00000644595.1:c.2483T>A	ENSP00000494121.1:p.Val828Glu
ENST00000644629.1:c.2070T>A
ENST00000644841.1:c.*967T>A	ENSP00000493988.1:n.*967T>A
ENST00000644959.1:c.2477T>A
ENST00000645553.1:c.2498T>A	ENSP00000494725.1:p.Val833Glu
ENST00000646085.1:c.*1961T>A	ENSP00000494509.1:n.*1961T>A
ENST00000646277.1:c.*1084T>A	ENSP00000495289.1:n.*1084T>A
ENST00000646544.1:c.1471T>A
ENST00000646699.1:c.2422T>A
ENST00000646793.1:c.2375T>A	ENSP00000494512.1:p.Val792Glu
ENST00000361150.6:c.2486T>A	ENSP00000354781.2:p.Val829Glu
ENST00000361510.6:c.2648T>A	ENSP00000355324.2:p.Val883Glu
ENST00000361715.6:c.2540T>A	ENSP00000355311.2:p.Val847Glu
ENST00000361828.6:c.2537T>A	ENSP00000354429.2:p.Val846Glu
ENST00000361908.7:c.2594T>A	ENSP00000354681.3:p.Val865Glu
ENST00000392438.7:c.2483T>A	ENSP00000376233.3:p.Val828Glu
ENST00000445863.1:c.59T>A	ENSP00000398358.1:p.Val20Glu
NM_015560.2:c.2483T>A , LRG_337t1:c.2483T>A	NP_056375.2:p.Val828Glu
NM_130831.2:c.2375T>A	NP_570844.1:p.Val792Glu
NM_130832.2:c.2429T>A	NP_570845.1:p.Val810Glu
NM_130833.2:c.2486T>A	NP_570846.1:p.Val829Glu
NM_130834.2:c.2537T>A	NP_570847.2:p.Val846Glu
NM_130835.2:c.2540T>A	NP_570848.1:p.Val847Glu
NM_130836.2:c.2594T>A	NP_570849.2:p.Val865Glu
NM_130837.2:c.2648T>A , LRG_337t2:c.2648T>A	NP_570850.2:p.Val883Glu
XM_011512863.1:c.2648T>A	XP_011511165.1:p.Val883Glu
XM_011512864.1:c.2594T>A	XP_011511166.1:p.Val865Glu
XM_011512865.1:c.2537T>A	XP_011511167.1:p.Val846Glu
XM_011512866.1:c.2486T>A	XP_011511168.1:p.Val829Glu
XM_011512867.1:c.2483T>A	XP_011511169.1:p.Val828Glu
XM_011512868.1:c.2375T>A	XP_011511170.1:p.Val792Glu
XR_924835.1:n.582+5971A>T
NM_001354663.1:c.2114T>A	NP_001341592.1:p.Val705Glu
NM_001354664.1:c.2111T>A	NP_001341593.1:p.Val704Glu
XR_001740158.2:n.2902T>A
XR_001740159.2:n.2737T>A
XR_001741072.1:n.601-2864A>T
XR_001741074.1:n.475+7859A>T
XR_924835.2:n.600+5971A>T
NM_001354663.2:c.2114T>A	NP_001341592.1:p.Val705Glu
NM_001354664.2:c.2111T>A	NP_001341593.1:p.Val704Glu
NM_130831.3:c.2375T>A	NP_570844.1:p.Val792Glu
NM_130832.3:c.2429T>A	NP_570845.1:p.Val810Glu
NM_130834.3:c.2537T>A	NP_570847.2:p.Val846Glu
NM_130836.3:c.2594T>A	NP_570849.2:p.Val865Glu
NM_015560.3:c.2483T>A	NP_056375.2:p.Val828Glu
NM_130833.3:c.2486T>A	NP_570846.1:p.Val829Glu
NM_130835.3:c.2540T>A	NP_570848.1:p.Val847Glu
NM_130837.3:c.2648T>A MANE Select	NP_570850.2:p.Val883Glu