Canonical Allele Identifier: CA355793052

Gene: OPA1

Linked Data

• gnomAD v4: 3-193662846-G-A
• MyVariant Identifiers: chr3:g.193380635G>A (hg19) ; chr3:g.193662846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662846G>A , CM000665.2:g.193662846G>A	GRCh38
NC_000003.11:g.193380635G>A , CM000665.1:g.193380635G>A	GRCh37
NC_000003.10:g.194863329G>A	NCBI36
NG_011605.1:g.74703G>A , LRG_337:g.74703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2545G>A MANE Select	ENSP00000355324.2:p.Glu849Lys
ENST00000361828.7:c.2380G>A	ENSP00000354429.3:p.Glu794Lys
ENST00000361908.8:c.2491G>A	ENSP00000354681.3:p.Glu831Lys
ENST00000392436.7:c.2380G>A	ENSP00000376231.3:p.Glu794Lys
ENST00000392437.6:c.2434G>A	ENSP00000376232.2:p.Glu812Lys
ENST00000642289.1:c.2319G>A
ENST00000642445.1:c.2380G>A	ENSP00000495535.1:p.Glu794Lys
ENST00000642593.1:c.*605G>A	ENSP00000494273.1:n.*605G>A
ENST00000643329.1:c.2062G>A	ENSP00000493673.1:p.Glu688Lys
ENST00000643737.1:c.*2461G>A	ENSP00000494210.1:n.*2461G>A
ENST00000644595.1:c.2380G>A	ENSP00000494121.1:p.Glu794Lys
ENST00000644629.1:c.1967G>A
ENST00000644841.1:c.*864G>A	ENSP00000493988.1:n.*864G>A
ENST00000644959.1:c.2374G>A
ENST00000645553.1:c.2395G>A	ENSP00000494725.1:p.Glu799Lys
ENST00000646085.1:c.*1858G>A	ENSP00000494509.1:n.*1858G>A
ENST00000646277.1:c.*981G>A	ENSP00000495289.1:n.*981G>A
ENST00000646544.1:c.1368G>A
ENST00000646699.1:c.2319G>A
ENST00000646793.1:c.2272G>A	ENSP00000494512.1:p.Glu758Lys
ENST00000361150.6:c.2383G>A	ENSP00000354781.2:p.Glu795Lys
ENST00000361510.6:c.2545G>A	ENSP00000355324.2:p.Glu849Lys
ENST00000361715.6:c.2437G>A	ENSP00000355311.2:p.Glu813Lys
ENST00000361828.6:c.2434G>A	ENSP00000354429.2:p.Glu812Lys
ENST00000361908.7:c.2491G>A	ENSP00000354681.3:p.Glu831Lys
ENST00000392438.7:c.2380G>A	ENSP00000376233.3:p.Glu794Lys
NM_015560.2:c.2380G>A , LRG_337t1:c.2380G>A	NP_056375.2:p.Glu794Lys
NM_130831.2:c.2272G>A	NP_570844.1:p.Glu758Lys
NM_130832.2:c.2326G>A	NP_570845.1:p.Glu776Lys
NM_130833.2:c.2383G>A	NP_570846.1:p.Glu795Lys
NM_130834.2:c.2434G>A	NP_570847.2:p.Glu812Lys
NM_130835.2:c.2437G>A	NP_570848.1:p.Glu813Lys
NM_130836.2:c.2491G>A	NP_570849.2:p.Glu831Lys
NM_130837.2:c.2545G>A , LRG_337t2:c.2545G>A	NP_570850.2:p.Glu849Lys
XM_011512863.1:c.2545G>A	XP_011511165.1:p.Glu849Lys
XM_011512864.1:c.2491G>A	XP_011511166.1:p.Glu831Lys
XM_011512865.1:c.2434G>A	XP_011511167.1:p.Glu812Lys
XM_011512866.1:c.2383G>A	XP_011511168.1:p.Glu795Lys
XM_011512867.1:c.2380G>A	XP_011511169.1:p.Glu794Lys
XM_011512868.1:c.2272G>A	XP_011511170.1:p.Glu758Lys
XR_924835.1:n.582+6074C>T
NM_001354663.1:c.2011G>A	NP_001341592.1:p.Glu671Lys
NM_001354664.1:c.2008G>A	NP_001341593.1:p.Glu670Lys
XR_001740158.2:n.2799G>A
XR_001740159.2:n.2634G>A
XR_001741072.1:n.601-2761C>T
XR_001741074.1:n.475+7962C>T
XR_924835.2:n.600+6074C>T
NM_001354663.2:c.2011G>A	NP_001341592.1:p.Glu671Lys
NM_001354664.2:c.2008G>A	NP_001341593.1:p.Glu670Lys
NM_130831.3:c.2272G>A	NP_570844.1:p.Glu758Lys
NM_130832.3:c.2326G>A	NP_570845.1:p.Glu776Lys
NM_130834.3:c.2434G>A	NP_570847.2:p.Glu812Lys
NM_130836.3:c.2491G>A	NP_570849.2:p.Glu831Lys
NM_015560.3:c.2380G>A	NP_056375.2:p.Glu794Lys
NM_130833.3:c.2383G>A	NP_570846.1:p.Glu795Lys
NM_130835.3:c.2437G>A	NP_570848.1:p.Glu813Lys
NM_130837.3:c.2545G>A MANE Select	NP_570850.2:p.Glu849Lys