Canonical Allele Identifier: CA355797874

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193385061A>C (hg19) ; chr3:g.193667272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667272A>C , CM000665.2:g.193667272A>C	GRCh38
NC_000003.11:g.193385061A>C , CM000665.1:g.193385061A>C	GRCh37
NC_000003.10:g.194867755A>C	NCBI36
NG_011605.1:g.79129A>C , LRG_337:g.79129A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2975A>C MANE Select	ENSP00000355324.2:p.Glu992Ala
ENST00000361828.7:c.2810A>C	ENSP00000354429.3:p.Glu937Ala
ENST00000361908.8:c.2921A>C	ENSP00000354681.3:p.Glu974Ala
ENST00000392436.7:c.2810A>C	ENSP00000376231.3:p.Glu937Ala
ENST00000392437.6:c.2864A>C	ENSP00000376232.2:p.Glu955Ala
ENST00000642289.1:c.2749A>C
ENST00000642445.1:c.2810A>C	ENSP00000495535.1:p.Glu937Ala
ENST00000642593.1:c.*1035A>C	ENSP00000494273.1:n.*1035A>C
ENST00000643329.1:c.2492A>C	ENSP00000493673.1:p.Glu831Ala
ENST00000643737.1:c.*2891A>C	ENSP00000494210.1:n.*2891A>C
ENST00000644595.1:c.2810A>C	ENSP00000494121.1:p.Glu937Ala
ENST00000644629.1:c.2397A>C
ENST00000644841.1:c.*1294A>C	ENSP00000493988.1:n.*1294A>C
ENST00000644959.1:c.2804A>C
ENST00000645553.1:c.2825A>C	ENSP00000494725.1:p.Glu942Ala
ENST00000646085.1:c.*2288A>C	ENSP00000494509.1:n.*2288A>C
ENST00000646277.1:c.*1411A>C	ENSP00000495289.1:n.*1411A>C
ENST00000646544.1:c.1798A>C
ENST00000646699.1:c.2749A>C
ENST00000646793.1:c.2702A>C	ENSP00000494512.1:p.Glu901Ala
ENST00000361150.6:c.2813A>C	ENSP00000354781.2:p.Glu938Ala
ENST00000361510.6:c.2975A>C	ENSP00000355324.2:p.Glu992Ala
ENST00000361715.6:c.2867A>C	ENSP00000355311.2:p.Glu956Ala
ENST00000361828.6:c.2864A>C	ENSP00000354429.2:p.Glu955Ala
ENST00000361908.7:c.2921A>C	ENSP00000354681.3:p.Glu974Ala
ENST00000392438.7:c.2810A>C	ENSP00000376233.3:p.Glu937Ala
ENST00000429164.1:c.97A>C
ENST00000445863.1:c.386A>C	ENSP00000398358.1:p.Glu129Ala
NM_015560.2:c.2810A>C , LRG_337t1:c.2810A>C	NP_056375.2:p.Glu937Ala
NM_130831.2:c.2702A>C	NP_570844.1:p.Glu901Ala
NM_130832.2:c.2756A>C	NP_570845.1:p.Glu919Ala
NM_130833.2:c.2813A>C	NP_570846.1:p.Glu938Ala
NM_130834.2:c.2864A>C	NP_570847.2:p.Glu955Ala
NM_130835.2:c.2867A>C	NP_570848.1:p.Glu956Ala
NM_130836.2:c.2921A>C	NP_570849.2:p.Glu974Ala
NM_130837.2:c.2975A>C , LRG_337t2:c.2975A>C	NP_570850.2:p.Glu992Ala
XM_011512863.1:c.2975A>C	XP_011511165.1:p.Glu992Ala
XM_011512864.1:c.2921A>C	XP_011511166.1:p.Glu974Ala
XM_011512865.1:c.2864A>C	XP_011511167.1:p.Glu955Ala
XM_011512866.1:c.2813A>C	XP_011511168.1:p.Glu938Ala
XM_011512867.1:c.2810A>C	XP_011511169.1:p.Glu937Ala
XM_011512868.1:c.2702A>C	XP_011511170.1:p.Glu901Ala
XR_924835.1:n.582+1648T>G
NM_001354663.1:c.2441A>C	NP_001341592.1:p.Glu814Ala
NM_001354664.1:c.2438A>C	NP_001341593.1:p.Glu813Ala
XR_001740158.2:n.3229A>C
XR_001740159.2:n.3064A>C
XR_001741072.1:n.600+1648T>G
XR_001741074.1:n.475+3536T>G
XR_924835.2:n.600+1648T>G
NM_001354663.2:c.2441A>C	NP_001341592.1:p.Glu814Ala
NM_001354664.2:c.2438A>C	NP_001341593.1:p.Glu813Ala
NM_130831.3:c.2702A>C	NP_570844.1:p.Glu901Ala
NM_130832.3:c.2756A>C	NP_570845.1:p.Glu919Ala
NM_130834.3:c.2864A>C	NP_570847.2:p.Glu955Ala
NM_130836.3:c.2921A>C	NP_570849.2:p.Glu974Ala
NM_015560.3:c.2810A>C	NP_056375.2:p.Glu937Ala
NM_130833.3:c.2813A>C	NP_570846.1:p.Glu938Ala
NM_130835.3:c.2867A>C	NP_570848.1:p.Glu956Ala
NM_130837.3:c.2975A>C MANE Select	NP_570850.2:p.Glu992Ala