Canonical Allele Identifier: CA10615470

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193696991T>C , CM000665.2:g.193696991T>C	GRCh38
NC_000003.11:g.193414780T>C , CM000665.1:g.193414780T>C	GRCh37
NC_000003.10:g.194897474T>C	NCBI36
NG_011605.1:g.108848T>C , LRG_337:g.108848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.*2391T>C MANE Select	ENSP00000355324.2:n.*2391T>C
ENST00000361828.7:c.*2391T>C	ENSP00000354429.3:n.*2391T>C
ENST00000361908.8:c.*2391T>C	ENSP00000354681.3:n.*2391T>C
ENST00000642445.1:c.*2525T>C	ENSP00000495535.1:n.*2525T>C
ENST00000643329.1:c.*2391T>C	ENSP00000493673.1:n.*2391T>C
ENST00000644629.1:c.4861T>C
ENST00000646277.1:c.*3875T>C	ENSP00000495289.1:n.*3875T>C
ENST00000646544.1:c.4262T>C
ENST00000646793.1:c.*2391T>C	ENSP00000494512.1:n.*2391T>C
ENST00000361150.6:c.*2391T>C	ENSP00000354781.2:n.*2391T>C
ENST00000361510.6:c.*2391T>C	ENSP00000355324.2:n.*2391T>C
ENST00000361715.6:c.*2391T>C	ENSP00000355311.2:n.*2391T>C
ENST00000361828.6:c.*2391T>C	ENSP00000354429.2:n.*2391T>C
ENST00000361908.7:c.*2391T>C	ENSP00000354681.3:n.*2391T>C
ENST00000392438.7:c.*2391T>C	ENSP00000376233.3:n.*2391T>C
ENST00000495261.1:n.3125T>C
NM_015560.2:c.*2391T>C , LRG_337t1:c.*2391T>C	NP_056375.2:n.*2391T>C
NM_130831.2:c.*2391T>C	NP_570844.1:n.*2391T>C
NM_130832.2:c.*2391T>C	NP_570845.1:n.*2391T>C
NM_130833.2:c.*2391T>C	NP_570846.1:n.*2391T>C
NM_130834.2:c.*2391T>C	NP_570847.2:n.*2391T>C
NM_130835.2:c.*2391T>C	NP_570848.1:n.*2391T>C
NM_130836.2:c.*2391T>C	NP_570849.2:n.*2391T>C
NM_130837.2:c.*2391T>C , LRG_337t2:c.*2391T>C	NP_570850.2:n.*2391T>C
NM_001354663.1:c.*2391T>C	NP_001341592.1:n.*2391T>C
NM_001354664.1:c.*2391T>C	NP_001341593.1:n.*2391T>C
XR_001740158.2:n.5693T>C
XR_001740159.2:n.5528T>C
NM_001354663.2:c.*2391T>C	NP_001341592.1:n.*2391T>C
NM_001354664.2:c.*2391T>C	NP_001341593.1:n.*2391T>C
NM_130831.3:c.*2391T>C	NP_570844.1:n.*2391T>C
NM_130832.3:c.*2391T>C	NP_570845.1:n.*2391T>C
NM_130834.3:c.*2391T>C	NP_570847.2:n.*2391T>C
NM_130836.3:c.*2391T>C	NP_570849.2:n.*2391T>C
NM_015560.3:c.*2391T>C	NP_056375.2:n.*2391T>C
NM_130833.3:c.*2391T>C	NP_570846.1:n.*2391T>C
NM_130835.3:c.*2391T>C	NP_570848.1:n.*2391T>C
NM_130837.3:c.*2391T>C MANE Select	NP_570850.2:n.*2391T>C