Canonical Allele Identifier: CA355793123

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380662G>C (hg19) ; chr3:g.193662873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662873G>C , CM000665.2:g.193662873G>C	GRCh38
NC_000003.11:g.193380662G>C , CM000665.1:g.193380662G>C	GRCh37
NC_000003.10:g.194863356G>C	NCBI36
NG_011605.1:g.74730G>C , LRG_337:g.74730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2572G>C MANE Select	ENSP00000355324.2:p.Glu858Gln
ENST00000361828.7:c.2407G>C	ENSP00000354429.3:p.Glu803Gln
ENST00000361908.8:c.2518G>C	ENSP00000354681.3:p.Glu840Gln
ENST00000392436.7:c.2407G>C	ENSP00000376231.3:p.Glu803Gln
ENST00000392437.6:c.2461G>C	ENSP00000376232.2:p.Glu821Gln
ENST00000642289.1:c.2346G>C
ENST00000642445.1:c.2407G>C	ENSP00000495535.1:p.Glu803Gln
ENST00000642593.1:c.*632G>C	ENSP00000494273.1:n.*632G>C
ENST00000643329.1:c.2089G>C	ENSP00000493673.1:p.Glu697Gln
ENST00000643737.1:c.*2488G>C	ENSP00000494210.1:n.*2488G>C
ENST00000644595.1:c.2407G>C	ENSP00000494121.1:p.Glu803Gln
ENST00000644629.1:c.1994G>C
ENST00000644841.1:c.*891G>C	ENSP00000493988.1:n.*891G>C
ENST00000644959.1:c.2401G>C
ENST00000645553.1:c.2422G>C	ENSP00000494725.1:p.Glu808Gln
ENST00000646085.1:c.*1885G>C	ENSP00000494509.1:n.*1885G>C
ENST00000646277.1:c.*1008G>C	ENSP00000495289.1:n.*1008G>C
ENST00000646544.1:c.1395G>C
ENST00000646699.1:c.2346G>C
ENST00000646793.1:c.2299G>C	ENSP00000494512.1:p.Glu767Gln
ENST00000361150.6:c.2410G>C	ENSP00000354781.2:p.Glu804Gln
ENST00000361510.6:c.2572G>C	ENSP00000355324.2:p.Glu858Gln
ENST00000361715.6:c.2464G>C	ENSP00000355311.2:p.Glu822Gln
ENST00000361828.6:c.2461G>C	ENSP00000354429.2:p.Glu821Gln
ENST00000361908.7:c.2518G>C	ENSP00000354681.3:p.Glu840Gln
ENST00000392438.7:c.2407G>C	ENSP00000376233.3:p.Glu803Gln
NM_015560.2:c.2407G>C , LRG_337t1:c.2407G>C	NP_056375.2:p.Glu803Gln
NM_130831.2:c.2299G>C	NP_570844.1:p.Glu767Gln
NM_130832.2:c.2353G>C	NP_570845.1:p.Glu785Gln
NM_130833.2:c.2410G>C	NP_570846.1:p.Glu804Gln
NM_130834.2:c.2461G>C	NP_570847.2:p.Glu821Gln
NM_130835.2:c.2464G>C	NP_570848.1:p.Glu822Gln
NM_130836.2:c.2518G>C	NP_570849.2:p.Glu840Gln
NM_130837.2:c.2572G>C , LRG_337t2:c.2572G>C	NP_570850.2:p.Glu858Gln
XM_011512863.1:c.2572G>C	XP_011511165.1:p.Glu858Gln
XM_011512864.1:c.2518G>C	XP_011511166.1:p.Glu840Gln
XM_011512865.1:c.2461G>C	XP_011511167.1:p.Glu821Gln
XM_011512866.1:c.2410G>C	XP_011511168.1:p.Glu804Gln
XM_011512867.1:c.2407G>C	XP_011511169.1:p.Glu803Gln
XM_011512868.1:c.2299G>C	XP_011511170.1:p.Glu767Gln
XR_924835.1:n.582+6047C>G
NM_001354663.1:c.2038G>C	NP_001341592.1:p.Glu680Gln
NM_001354664.1:c.2035G>C	NP_001341593.1:p.Glu679Gln
XR_001740158.2:n.2826G>C
XR_001740159.2:n.2661G>C
XR_001741072.1:n.601-2788C>G
XR_001741074.1:n.475+7935C>G
XR_924835.2:n.600+6047C>G
NM_001354663.2:c.2038G>C	NP_001341592.1:p.Glu680Gln
NM_001354664.2:c.2035G>C	NP_001341593.1:p.Glu679Gln
NM_130831.3:c.2299G>C	NP_570844.1:p.Glu767Gln
NM_130832.3:c.2353G>C	NP_570845.1:p.Glu785Gln
NM_130834.3:c.2461G>C	NP_570847.2:p.Glu821Gln
NM_130836.3:c.2518G>C	NP_570849.2:p.Glu840Gln
NM_015560.3:c.2407G>C	NP_056375.2:p.Glu803Gln
NM_130833.3:c.2410G>C	NP_570846.1:p.Glu804Gln
NM_130835.3:c.2464G>C	NP_570848.1:p.Glu822Gln
NM_130837.3:c.2572G>C MANE Select	NP_570850.2:p.Glu858Gln