Canonical Allele Identifier: CA355792913

Gene: OPA1

Linked Data

• dbSNP Id: rs2109193439
• MyVariant Identifiers: chr3:g.193377321T>A (hg19) ; chr3:g.193659532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659532T>A , CM000665.2:g.193659532T>A	GRCh38
NC_000003.11:g.193377321T>A , CM000665.1:g.193377321T>A	GRCh37
NC_000003.10:g.194860015T>A	NCBI36
NG_011605.1:g.71389T>A , LRG_337:g.71389T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2491T>A MANE Select	ENSP00000355324.2:p.Leu831Ile
ENST00000361828.7:c.2326T>A	ENSP00000354429.3:p.Leu776Ile
ENST00000361908.8:c.2437T>A	ENSP00000354681.3:p.Leu813Ile
ENST00000392436.7:c.2326T>A	ENSP00000376231.3:p.Leu776Ile
ENST00000392437.6:c.2380T>A	ENSP00000376232.2:p.Leu794Ile
ENST00000642289.1:c.2265T>A
ENST00000642445.1:c.2326T>A	ENSP00000495535.1:p.Leu776Ile
ENST00000642593.1:c.*551T>A	ENSP00000494273.1:n.*551T>A
ENST00000643329.1:c.2008T>A	ENSP00000493673.1:p.Leu670Ile
ENST00000643737.1:c.*2407T>A	ENSP00000494210.1:n.*2407T>A
ENST00000644595.1:c.2326T>A	ENSP00000494121.1:p.Leu776Ile
ENST00000644629.1:c.1913T>A
ENST00000644841.1:c.*810T>A	ENSP00000493988.1:n.*810T>A
ENST00000644959.1:c.2320T>A
ENST00000645553.1:c.2341T>A	ENSP00000494725.1:p.Leu781Ile
ENST00000646085.1:c.*1804T>A	ENSP00000494509.1:n.*1804T>A
ENST00000646277.1:c.*927T>A	ENSP00000495289.1:n.*927T>A
ENST00000646544.1:c.1314T>A
ENST00000646699.1:c.2265T>A
ENST00000646793.1:c.2218T>A	ENSP00000494512.1:p.Leu740Ile
ENST00000361150.6:c.2329T>A	ENSP00000354781.2:p.Leu777Ile
ENST00000361510.6:c.2491T>A	ENSP00000355324.2:p.Leu831Ile
ENST00000361715.6:c.2383T>A	ENSP00000355311.2:p.Leu795Ile
ENST00000361828.6:c.2380T>A	ENSP00000354429.2:p.Leu794Ile
ENST00000361908.7:c.2437T>A	ENSP00000354681.3:p.Leu813Ile
ENST00000392438.7:c.2326T>A	ENSP00000376233.3:p.Leu776Ile
NM_015560.2:c.2326T>A , LRG_337t1:c.2326T>A	NP_056375.2:p.Leu776Ile
NM_130831.2:c.2218T>A	NP_570844.1:p.Leu740Ile
NM_130832.2:c.2272T>A	NP_570845.1:p.Leu758Ile
NM_130833.2:c.2329T>A	NP_570846.1:p.Leu777Ile
NM_130834.2:c.2380T>A	NP_570847.2:p.Leu794Ile
NM_130835.2:c.2383T>A	NP_570848.1:p.Leu795Ile
NM_130836.2:c.2437T>A	NP_570849.2:p.Leu813Ile
NM_130837.2:c.2491T>A , LRG_337t2:c.2491T>A	NP_570850.2:p.Leu831Ile
XM_011512863.1:c.2491T>A	XP_011511165.1:p.Leu831Ile
XM_011512864.1:c.2437T>A	XP_011511166.1:p.Leu813Ile
XM_011512865.1:c.2380T>A	XP_011511167.1:p.Leu794Ile
XM_011512866.1:c.2329T>A	XP_011511168.1:p.Leu777Ile
XM_011512867.1:c.2326T>A	XP_011511169.1:p.Leu776Ile
XM_011512868.1:c.2218T>A	XP_011511170.1:p.Leu740Ile
XR_924835.1:n.582+9388A>T
NM_001354663.1:c.1957T>A	NP_001341592.1:p.Leu653Ile
NM_001354664.1:c.1954T>A	NP_001341593.1:p.Leu652Ile
XR_001740158.2:n.2745T>A
XR_001740159.2:n.2580T>A
XR_001741074.1:n.475+11276A>T
XR_924835.2:n.600+9388A>T
NM_001354663.2:c.1957T>A	NP_001341592.1:p.Leu653Ile
NM_001354664.2:c.1954T>A	NP_001341593.1:p.Leu652Ile
NM_130831.3:c.2218T>A	NP_570844.1:p.Leu740Ile
NM_130832.3:c.2272T>A	NP_570845.1:p.Leu758Ile
NM_130834.3:c.2380T>A	NP_570847.2:p.Leu794Ile
NM_130836.3:c.2437T>A	NP_570849.2:p.Leu813Ile
NM_015560.3:c.2326T>A	NP_056375.2:p.Leu776Ile
NM_130833.3:c.2329T>A	NP_570846.1:p.Leu777Ile
NM_130835.3:c.2383T>A	NP_570848.1:p.Leu795Ile
NM_130837.3:c.2491T>A MANE Select	NP_570850.2:p.Leu831Ile