Canonical Allele Identifier: CA355797316

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193384994G>C (hg19) ; chr3:g.193667205G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667205G>C , CM000665.2:g.193667205G>C	GRCh38
NC_000003.11:g.193384994G>C , CM000665.1:g.193384994G>C	GRCh37
NC_000003.10:g.194867688G>C	NCBI36
NG_011605.1:g.79062G>C , LRG_337:g.79062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2908G>C MANE Select	ENSP00000355324.2:p.Glu970Gln
ENST00000361828.7:c.2743G>C	ENSP00000354429.3:p.Glu915Gln
ENST00000361908.8:c.2854G>C	ENSP00000354681.3:p.Glu952Gln
ENST00000392436.7:c.2743G>C	ENSP00000376231.3:p.Glu915Gln
ENST00000392437.6:c.2797G>C	ENSP00000376232.2:p.Glu933Gln
ENST00000642289.1:c.2682G>C
ENST00000642445.1:c.2743G>C	ENSP00000495535.1:p.Glu915Gln
ENST00000642593.1:c.*968G>C	ENSP00000494273.1:n.*968G>C
ENST00000643329.1:c.2425G>C	ENSP00000493673.1:p.Glu809Gln
ENST00000643737.1:c.*2824G>C	ENSP00000494210.1:n.*2824G>C
ENST00000644595.1:c.2743G>C	ENSP00000494121.1:p.Glu915Gln
ENST00000644629.1:c.2330G>C
ENST00000644841.1:c.*1227G>C	ENSP00000493988.1:n.*1227G>C
ENST00000644959.1:c.2737G>C
ENST00000645553.1:c.2758G>C	ENSP00000494725.1:p.Glu920Gln
ENST00000646085.1:c.*2221G>C	ENSP00000494509.1:n.*2221G>C
ENST00000646277.1:c.*1344G>C	ENSP00000495289.1:n.*1344G>C
ENST00000646544.1:c.1731G>C
ENST00000646699.1:c.2682G>C
ENST00000646793.1:c.2635G>C	ENSP00000494512.1:p.Glu879Gln
ENST00000361150.6:c.2746G>C	ENSP00000354781.2:p.Glu916Gln
ENST00000361510.6:c.2908G>C	ENSP00000355324.2:p.Glu970Gln
ENST00000361715.6:c.2800G>C	ENSP00000355311.2:p.Glu934Gln
ENST00000361828.6:c.2797G>C	ENSP00000354429.2:p.Glu933Gln
ENST00000361908.7:c.2854G>C	ENSP00000354681.3:p.Glu952Gln
ENST00000392438.7:c.2743G>C	ENSP00000376233.3:p.Glu915Gln
ENST00000429164.1:c.30G>C
ENST00000445863.1:c.319G>C	ENSP00000398358.1:p.Glu107Gln
NM_015560.2:c.2743G>C , LRG_337t1:c.2743G>C	NP_056375.2:p.Glu915Gln
NM_130831.2:c.2635G>C	NP_570844.1:p.Glu879Gln
NM_130832.2:c.2689G>C	NP_570845.1:p.Glu897Gln
NM_130833.2:c.2746G>C	NP_570846.1:p.Glu916Gln
NM_130834.2:c.2797G>C	NP_570847.2:p.Glu933Gln
NM_130835.2:c.2800G>C	NP_570848.1:p.Glu934Gln
NM_130836.2:c.2854G>C	NP_570849.2:p.Glu952Gln
NM_130837.2:c.2908G>C , LRG_337t2:c.2908G>C	NP_570850.2:p.Glu970Gln
XM_011512863.1:c.2908G>C	XP_011511165.1:p.Glu970Gln
XM_011512864.1:c.2854G>C	XP_011511166.1:p.Glu952Gln
XM_011512865.1:c.2797G>C	XP_011511167.1:p.Glu933Gln
XM_011512866.1:c.2746G>C	XP_011511168.1:p.Glu916Gln
XM_011512867.1:c.2743G>C	XP_011511169.1:p.Glu915Gln
XM_011512868.1:c.2635G>C	XP_011511170.1:p.Glu879Gln
XR_924835.1:n.582+1715C>G
NM_001354663.1:c.2374G>C	NP_001341592.1:p.Glu792Gln
NM_001354664.1:c.2371G>C	NP_001341593.1:p.Glu791Gln
XR_001740158.2:n.3162G>C
XR_001740159.2:n.2997G>C
XR_001741072.1:n.600+1715C>G
XR_001741074.1:n.475+3603C>G
XR_924835.2:n.600+1715C>G
NM_001354663.2:c.2374G>C	NP_001341592.1:p.Glu792Gln
NM_001354664.2:c.2371G>C	NP_001341593.1:p.Glu791Gln
NM_130831.3:c.2635G>C	NP_570844.1:p.Glu879Gln
NM_130832.3:c.2689G>C	NP_570845.1:p.Glu897Gln
NM_130834.3:c.2797G>C	NP_570847.2:p.Glu933Gln
NM_130836.3:c.2854G>C	NP_570849.2:p.Glu952Gln
NM_015560.3:c.2743G>C	NP_056375.2:p.Glu915Gln
NM_130833.3:c.2746G>C	NP_570846.1:p.Glu916Gln
NM_130835.3:c.2800G>C	NP_570848.1:p.Glu934Gln
NM_130837.3:c.2908G>C MANE Select	NP_570850.2:p.Glu970Gln