Canonical Allele Identifier: CA355793155

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380675C>A (hg19) ; chr3:g.193662886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662886C>A , CM000665.2:g.193662886C>A	GRCh38
NC_000003.11:g.193380675C>A , CM000665.1:g.193380675C>A	GRCh37
NC_000003.10:g.194863369C>A	NCBI36
NG_011605.1:g.74743C>A , LRG_337:g.74743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2585C>A MANE Select	ENSP00000355324.2:p.Ala862Asp
ENST00000361828.7:c.2420C>A	ENSP00000354429.3:p.Ala807Asp
ENST00000361908.8:c.2531C>A	ENSP00000354681.3:p.Ala844Asp
ENST00000392436.7:c.2420C>A	ENSP00000376231.3:p.Ala807Asp
ENST00000392437.6:c.2474C>A	ENSP00000376232.2:p.Ala825Asp
ENST00000642289.1:c.2359C>A
ENST00000642445.1:c.2420C>A	ENSP00000495535.1:p.Ala807Asp
ENST00000642593.1:c.*645C>A	ENSP00000494273.1:n.*645C>A
ENST00000643329.1:c.2102C>A	ENSP00000493673.1:p.Ala701Asp
ENST00000643737.1:c.*2501C>A	ENSP00000494210.1:n.*2501C>A
ENST00000644595.1:c.2420C>A	ENSP00000494121.1:p.Ala807Asp
ENST00000644629.1:c.2007C>A
ENST00000644841.1:c.*904C>A	ENSP00000493988.1:n.*904C>A
ENST00000644959.1:c.2414C>A
ENST00000645553.1:c.2435C>A	ENSP00000494725.1:p.Ala812Asp
ENST00000646085.1:c.*1898C>A	ENSP00000494509.1:n.*1898C>A
ENST00000646277.1:c.*1021C>A	ENSP00000495289.1:n.*1021C>A
ENST00000646544.1:c.1408C>A
ENST00000646699.1:c.2359C>A
ENST00000646793.1:c.2312C>A	ENSP00000494512.1:p.Ala771Asp
ENST00000361150.6:c.2423C>A	ENSP00000354781.2:p.Ala808Asp
ENST00000361510.6:c.2585C>A	ENSP00000355324.2:p.Ala862Asp
ENST00000361715.6:c.2477C>A	ENSP00000355311.2:p.Ala826Asp
ENST00000361828.6:c.2474C>A	ENSP00000354429.2:p.Ala825Asp
ENST00000361908.7:c.2531C>A	ENSP00000354681.3:p.Ala844Asp
ENST00000392438.7:c.2420C>A	ENSP00000376233.3:p.Ala807Asp
NM_015560.2:c.2420C>A , LRG_337t1:c.2420C>A	NP_056375.2:p.Ala807Asp
NM_130831.2:c.2312C>A	NP_570844.1:p.Ala771Asp
NM_130832.2:c.2366C>A	NP_570845.1:p.Ala789Asp
NM_130833.2:c.2423C>A	NP_570846.1:p.Ala808Asp
NM_130834.2:c.2474C>A	NP_570847.2:p.Ala825Asp
NM_130835.2:c.2477C>A	NP_570848.1:p.Ala826Asp
NM_130836.2:c.2531C>A	NP_570849.2:p.Ala844Asp
NM_130837.2:c.2585C>A , LRG_337t2:c.2585C>A	NP_570850.2:p.Ala862Asp
XM_011512863.1:c.2585C>A	XP_011511165.1:p.Ala862Asp
XM_011512864.1:c.2531C>A	XP_011511166.1:p.Ala844Asp
XM_011512865.1:c.2474C>A	XP_011511167.1:p.Ala825Asp
XM_011512866.1:c.2423C>A	XP_011511168.1:p.Ala808Asp
XM_011512867.1:c.2420C>A	XP_011511169.1:p.Ala807Asp
XM_011512868.1:c.2312C>A	XP_011511170.1:p.Ala771Asp
XR_924835.1:n.582+6034G>T
NM_001354663.1:c.2051C>A	NP_001341592.1:p.Ala684Asp
NM_001354664.1:c.2048C>A	NP_001341593.1:p.Ala683Asp
XR_001740158.2:n.2839C>A
XR_001740159.2:n.2674C>A
XR_001741072.1:n.601-2801G>T
XR_001741074.1:n.475+7922G>T
XR_924835.2:n.600+6034G>T
NM_001354663.2:c.2051C>A	NP_001341592.1:p.Ala684Asp
NM_001354664.2:c.2048C>A	NP_001341593.1:p.Ala683Asp
NM_130831.3:c.2312C>A	NP_570844.1:p.Ala771Asp
NM_130832.3:c.2366C>A	NP_570845.1:p.Ala789Asp
NM_130834.3:c.2474C>A	NP_570847.2:p.Ala825Asp
NM_130836.3:c.2531C>A	NP_570849.2:p.Ala844Asp
NM_015560.3:c.2420C>A	NP_056375.2:p.Ala807Asp
NM_130833.3:c.2423C>A	NP_570846.1:p.Ala808Asp
NM_130835.3:c.2477C>A	NP_570848.1:p.Ala826Asp
NM_130837.3:c.2585C>A MANE Select	NP_570850.2:p.Ala862Asp