Canonical Allele Identifier: CA355792904

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193377318T>C (hg19) ; chr3:g.193659529T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659529T>C , CM000665.2:g.193659529T>C	GRCh38
NC_000003.11:g.193377318T>C , CM000665.1:g.193377318T>C	GRCh37
NC_000003.10:g.194860012T>C	NCBI36
NG_011605.1:g.71386T>C , LRG_337:g.71386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2488T>C MANE Select	ENSP00000355324.2:p.Trp830Arg
ENST00000361828.7:c.2323T>C	ENSP00000354429.3:p.Trp775Arg
ENST00000361908.8:c.2434T>C	ENSP00000354681.3:p.Trp812Arg
ENST00000392436.7:c.2323T>C	ENSP00000376231.3:p.Trp775Arg
ENST00000392437.6:c.2377T>C	ENSP00000376232.2:p.Trp793Arg
ENST00000642289.1:c.2262T>C
ENST00000642445.1:c.2323T>C	ENSP00000495535.1:p.Trp775Arg
ENST00000642593.1:c.*548T>C	ENSP00000494273.1:n.*548T>C
ENST00000643329.1:c.2005T>C	ENSP00000493673.1:p.Trp669Arg
ENST00000643737.1:c.*2404T>C	ENSP00000494210.1:n.*2404T>C
ENST00000644595.1:c.2323T>C	ENSP00000494121.1:p.Trp775Arg
ENST00000644629.1:c.1910T>C
ENST00000644841.1:c.*807T>C	ENSP00000493988.1:n.*807T>C
ENST00000644959.1:c.2317T>C
ENST00000645553.1:c.2338T>C	ENSP00000494725.1:p.Trp780Arg
ENST00000646085.1:c.*1801T>C	ENSP00000494509.1:n.*1801T>C
ENST00000646277.1:c.*924T>C	ENSP00000495289.1:n.*924T>C
ENST00000646544.1:c.1311T>C
ENST00000646699.1:c.2262T>C
ENST00000646793.1:c.2215T>C	ENSP00000494512.1:p.Trp739Arg
ENST00000361150.6:c.2326T>C	ENSP00000354781.2:p.Trp776Arg
ENST00000361510.6:c.2488T>C	ENSP00000355324.2:p.Trp830Arg
ENST00000361715.6:c.2380T>C	ENSP00000355311.2:p.Trp794Arg
ENST00000361828.6:c.2377T>C	ENSP00000354429.2:p.Trp793Arg
ENST00000361908.7:c.2434T>C	ENSP00000354681.3:p.Trp812Arg
ENST00000392438.7:c.2323T>C	ENSP00000376233.3:p.Trp775Arg
NM_015560.2:c.2323T>C , LRG_337t1:c.2323T>C	NP_056375.2:p.Trp775Arg
NM_130831.2:c.2215T>C	NP_570844.1:p.Trp739Arg
NM_130832.2:c.2269T>C	NP_570845.1:p.Trp757Arg
NM_130833.2:c.2326T>C	NP_570846.1:p.Trp776Arg
NM_130834.2:c.2377T>C	NP_570847.2:p.Trp793Arg
NM_130835.2:c.2380T>C	NP_570848.1:p.Trp794Arg
NM_130836.2:c.2434T>C	NP_570849.2:p.Trp812Arg
NM_130837.2:c.2488T>C , LRG_337t2:c.2488T>C	NP_570850.2:p.Trp830Arg
XM_011512863.1:c.2488T>C	XP_011511165.1:p.Trp830Arg
XM_011512864.1:c.2434T>C	XP_011511166.1:p.Trp812Arg
XM_011512865.1:c.2377T>C	XP_011511167.1:p.Trp793Arg
XM_011512866.1:c.2326T>C	XP_011511168.1:p.Trp776Arg
XM_011512867.1:c.2323T>C	XP_011511169.1:p.Trp775Arg
XM_011512868.1:c.2215T>C	XP_011511170.1:p.Trp739Arg
XR_924835.1:n.582+9391A>G
NM_001354663.1:c.1954T>C	NP_001341592.1:p.Trp652Arg
NM_001354664.1:c.1951T>C	NP_001341593.1:p.Trp651Arg
XR_001740158.2:n.2742T>C
XR_001740159.2:n.2577T>C
XR_001741074.1:n.475+11279A>G
XR_924835.2:n.600+9391A>G
NM_001354663.2:c.1954T>C	NP_001341592.1:p.Trp652Arg
NM_001354664.2:c.1951T>C	NP_001341593.1:p.Trp651Arg
NM_130831.3:c.2215T>C	NP_570844.1:p.Trp739Arg
NM_130832.3:c.2269T>C	NP_570845.1:p.Trp757Arg
NM_130834.3:c.2377T>C	NP_570847.2:p.Trp793Arg
NM_130836.3:c.2434T>C	NP_570849.2:p.Trp812Arg
NM_015560.3:c.2323T>C	NP_056375.2:p.Trp775Arg
NM_130833.3:c.2326T>C	NP_570846.1:p.Trp776Arg
NM_130835.3:c.2380T>C	NP_570848.1:p.Trp794Arg
NM_130837.3:c.2488T>C MANE Select	NP_570850.2:p.Trp830Arg