Canonical Allele Identifier: CA355797206

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193384979G>C (hg19) ; chr3:g.193667190G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667190G>C , CM000665.2:g.193667190G>C	GRCh38
NC_000003.11:g.193384979G>C , CM000665.1:g.193384979G>C	GRCh37
NC_000003.10:g.194867673G>C	NCBI36
NG_011605.1:g.79047G>C , LRG_337:g.79047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2893G>C MANE Select	ENSP00000355324.2:p.Val965Leu
ENST00000361828.7:c.2728G>C	ENSP00000354429.3:p.Val910Leu
ENST00000361908.8:c.2839G>C	ENSP00000354681.3:p.Val947Leu
ENST00000392436.7:c.2728G>C	ENSP00000376231.3:p.Val910Leu
ENST00000392437.6:c.2782G>C	ENSP00000376232.2:p.Val928Leu
ENST00000642289.1:c.2667G>C
ENST00000642445.1:c.2728G>C	ENSP00000495535.1:p.Val910Leu
ENST00000642593.1:c.*953G>C	ENSP00000494273.1:n.*953G>C
ENST00000643329.1:c.2410G>C	ENSP00000493673.1:p.Val804Leu
ENST00000643737.1:c.*2809G>C	ENSP00000494210.1:n.*2809G>C
ENST00000644595.1:c.2728G>C	ENSP00000494121.1:p.Val910Leu
ENST00000644629.1:c.2315G>C
ENST00000644841.1:c.*1212G>C	ENSP00000493988.1:n.*1212G>C
ENST00000644959.1:c.2722G>C
ENST00000645553.1:c.2743G>C	ENSP00000494725.1:p.Val915Leu
ENST00000646085.1:c.*2206G>C	ENSP00000494509.1:n.*2206G>C
ENST00000646277.1:c.*1329G>C	ENSP00000495289.1:n.*1329G>C
ENST00000646544.1:c.1716G>C
ENST00000646699.1:c.2667G>C
ENST00000646793.1:c.2620G>C	ENSP00000494512.1:p.Val874Leu
ENST00000361150.6:c.2731G>C	ENSP00000354781.2:p.Val911Leu
ENST00000361510.6:c.2893G>C	ENSP00000355324.2:p.Val965Leu
ENST00000361715.6:c.2785G>C	ENSP00000355311.2:p.Val929Leu
ENST00000361828.6:c.2782G>C	ENSP00000354429.2:p.Val928Leu
ENST00000361908.7:c.2839G>C	ENSP00000354681.3:p.Val947Leu
ENST00000392438.7:c.2728G>C	ENSP00000376233.3:p.Val910Leu
ENST00000429164.1:c.15G>C
ENST00000445863.1:c.304G>C	ENSP00000398358.1:p.Val102Leu
NM_015560.2:c.2728G>C , LRG_337t1:c.2728G>C	NP_056375.2:p.Val910Leu
NM_130831.2:c.2620G>C	NP_570844.1:p.Val874Leu
NM_130832.2:c.2674G>C	NP_570845.1:p.Val892Leu
NM_130833.2:c.2731G>C	NP_570846.1:p.Val911Leu
NM_130834.2:c.2782G>C	NP_570847.2:p.Val928Leu
NM_130835.2:c.2785G>C	NP_570848.1:p.Val929Leu
NM_130836.2:c.2839G>C	NP_570849.2:p.Val947Leu
NM_130837.2:c.2893G>C , LRG_337t2:c.2893G>C	NP_570850.2:p.Val965Leu
XM_011512863.1:c.2893G>C	XP_011511165.1:p.Val965Leu
XM_011512864.1:c.2839G>C	XP_011511166.1:p.Val947Leu
XM_011512865.1:c.2782G>C	XP_011511167.1:p.Val928Leu
XM_011512866.1:c.2731G>C	XP_011511168.1:p.Val911Leu
XM_011512867.1:c.2728G>C	XP_011511169.1:p.Val910Leu
XM_011512868.1:c.2620G>C	XP_011511170.1:p.Val874Leu
XR_924835.1:n.582+1730C>G
NM_001354663.1:c.2359G>C	NP_001341592.1:p.Val787Leu
NM_001354664.1:c.2356G>C	NP_001341593.1:p.Val786Leu
XR_001740158.2:n.3147G>C
XR_001740159.2:n.2982G>C
XR_001741072.1:n.600+1730C>G
XR_001741074.1:n.475+3618C>G
XR_924835.2:n.600+1730C>G
NM_001354663.2:c.2359G>C	NP_001341592.1:p.Val787Leu
NM_001354664.2:c.2356G>C	NP_001341593.1:p.Val786Leu
NM_130831.3:c.2620G>C	NP_570844.1:p.Val874Leu
NM_130832.3:c.2674G>C	NP_570845.1:p.Val892Leu
NM_130834.3:c.2782G>C	NP_570847.2:p.Val928Leu
NM_130836.3:c.2839G>C	NP_570849.2:p.Val947Leu
NM_015560.3:c.2728G>C	NP_056375.2:p.Val910Leu
NM_130833.3:c.2731G>C	NP_570846.1:p.Val911Leu
NM_130835.3:c.2785G>C	NP_570848.1:p.Val929Leu
NM_130837.3:c.2893G>C MANE Select	NP_570850.2:p.Val965Leu