Canonical Allele Identifier: CA355793101

Gene: OPA1

Linked Data

• gnomAD v4: 3-193662865-A-C
• MyVariant Identifiers: chr3:g.193380654A>C (hg19) ; chr3:g.193662865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662865A>C , CM000665.2:g.193662865A>C	GRCh38
NC_000003.11:g.193380654A>C , CM000665.1:g.193380654A>C	GRCh37
NC_000003.10:g.194863348A>C	NCBI36
NG_011605.1:g.74722A>C , LRG_337:g.74722A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2564A>C MANE Select	ENSP00000355324.2:p.Lys855Thr
ENST00000361828.7:c.2399A>C	ENSP00000354429.3:p.Lys800Thr
ENST00000361908.8:c.2510A>C	ENSP00000354681.3:p.Lys837Thr
ENST00000392436.7:c.2399A>C	ENSP00000376231.3:p.Lys800Thr
ENST00000392437.6:c.2453A>C	ENSP00000376232.2:p.Lys818Thr
ENST00000642289.1:c.2338A>C
ENST00000642445.1:c.2399A>C	ENSP00000495535.1:p.Lys800Thr
ENST00000642593.1:c.*624A>C	ENSP00000494273.1:n.*624A>C
ENST00000643329.1:c.2081A>C	ENSP00000493673.1:p.Lys694Thr
ENST00000643737.1:c.*2480A>C	ENSP00000494210.1:n.*2480A>C
ENST00000644595.1:c.2399A>C	ENSP00000494121.1:p.Lys800Thr
ENST00000644629.1:c.1986A>C
ENST00000644841.1:c.*883A>C	ENSP00000493988.1:n.*883A>C
ENST00000644959.1:c.2393A>C
ENST00000645553.1:c.2414A>C	ENSP00000494725.1:p.Lys805Thr
ENST00000646085.1:c.*1877A>C	ENSP00000494509.1:n.*1877A>C
ENST00000646277.1:c.*1000A>C	ENSP00000495289.1:n.*1000A>C
ENST00000646544.1:c.1387A>C
ENST00000646699.1:c.2338A>C
ENST00000646793.1:c.2291A>C	ENSP00000494512.1:p.Lys764Thr
ENST00000361150.6:c.2402A>C	ENSP00000354781.2:p.Lys801Thr
ENST00000361510.6:c.2564A>C	ENSP00000355324.2:p.Lys855Thr
ENST00000361715.6:c.2456A>C	ENSP00000355311.2:p.Lys819Thr
ENST00000361828.6:c.2453A>C	ENSP00000354429.2:p.Lys818Thr
ENST00000361908.7:c.2510A>C	ENSP00000354681.3:p.Lys837Thr
ENST00000392438.7:c.2399A>C	ENSP00000376233.3:p.Lys800Thr
NM_015560.2:c.2399A>C , LRG_337t1:c.2399A>C	NP_056375.2:p.Lys800Thr
NM_130831.2:c.2291A>C	NP_570844.1:p.Lys764Thr
NM_130832.2:c.2345A>C	NP_570845.1:p.Lys782Thr
NM_130833.2:c.2402A>C	NP_570846.1:p.Lys801Thr
NM_130834.2:c.2453A>C	NP_570847.2:p.Lys818Thr
NM_130835.2:c.2456A>C	NP_570848.1:p.Lys819Thr
NM_130836.2:c.2510A>C	NP_570849.2:p.Lys837Thr
NM_130837.2:c.2564A>C , LRG_337t2:c.2564A>C	NP_570850.2:p.Lys855Thr
XM_011512863.1:c.2564A>C	XP_011511165.1:p.Lys855Thr
XM_011512864.1:c.2510A>C	XP_011511166.1:p.Lys837Thr
XM_011512865.1:c.2453A>C	XP_011511167.1:p.Lys818Thr
XM_011512866.1:c.2402A>C	XP_011511168.1:p.Lys801Thr
XM_011512867.1:c.2399A>C	XP_011511169.1:p.Lys800Thr
XM_011512868.1:c.2291A>C	XP_011511170.1:p.Lys764Thr
XR_924835.1:n.582+6055T>G
NM_001354663.1:c.2030A>C	NP_001341592.1:p.Lys677Thr
NM_001354664.1:c.2027A>C	NP_001341593.1:p.Lys676Thr
XR_001740158.2:n.2818A>C
XR_001740159.2:n.2653A>C
XR_001741072.1:n.601-2780T>G
XR_001741074.1:n.475+7943T>G
XR_924835.2:n.600+6055T>G
NM_001354663.2:c.2030A>C	NP_001341592.1:p.Lys677Thr
NM_001354664.2:c.2027A>C	NP_001341593.1:p.Lys676Thr
NM_130831.3:c.2291A>C	NP_570844.1:p.Lys764Thr
NM_130832.3:c.2345A>C	NP_570845.1:p.Lys782Thr
NM_130834.3:c.2453A>C	NP_570847.2:p.Lys818Thr
NM_130836.3:c.2510A>C	NP_570849.2:p.Lys837Thr
NM_015560.3:c.2399A>C	NP_056375.2:p.Lys800Thr
NM_130833.3:c.2402A>C	NP_570846.1:p.Lys801Thr
NM_130835.3:c.2456A>C	NP_570848.1:p.Lys819Thr
NM_130837.3:c.2564A>C MANE Select	NP_570850.2:p.Lys855Thr