Canonical Allele Identifier: CA355797515

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193385018A>C (hg19) ; chr3:g.193667229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667229A>C , CM000665.2:g.193667229A>C	GRCh38
NC_000003.11:g.193385018A>C , CM000665.1:g.193385018A>C	GRCh37
NC_000003.10:g.194867712A>C	NCBI36
NG_011605.1:g.79086A>C , LRG_337:g.79086A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2932A>C MANE Select	ENSP00000355324.2:p.Lys978Gln
ENST00000361828.7:c.2767A>C	ENSP00000354429.3:p.Lys923Gln
ENST00000361908.8:c.2878A>C	ENSP00000354681.3:p.Lys960Gln
ENST00000392436.7:c.2767A>C	ENSP00000376231.3:p.Lys923Gln
ENST00000392437.6:c.2821A>C	ENSP00000376232.2:p.Lys941Gln
ENST00000642289.1:c.2706A>C
ENST00000642445.1:c.2767A>C	ENSP00000495535.1:p.Lys923Gln
ENST00000642593.1:c.*992A>C	ENSP00000494273.1:n.*992A>C
ENST00000643329.1:c.2449A>C	ENSP00000493673.1:p.Lys817Gln
ENST00000643737.1:c.*2848A>C	ENSP00000494210.1:n.*2848A>C
ENST00000644595.1:c.2767A>C	ENSP00000494121.1:p.Lys923Gln
ENST00000644629.1:c.2354A>C
ENST00000644841.1:c.*1251A>C	ENSP00000493988.1:n.*1251A>C
ENST00000644959.1:c.2761A>C
ENST00000645553.1:c.2782A>C	ENSP00000494725.1:p.Lys928Gln
ENST00000646085.1:c.*2245A>C	ENSP00000494509.1:n.*2245A>C
ENST00000646277.1:c.*1368A>C	ENSP00000495289.1:n.*1368A>C
ENST00000646544.1:c.1755A>C
ENST00000646699.1:c.2706A>C
ENST00000646793.1:c.2659A>C	ENSP00000494512.1:p.Lys887Gln
ENST00000361150.6:c.2770A>C	ENSP00000354781.2:p.Lys924Gln
ENST00000361510.6:c.2932A>C	ENSP00000355324.2:p.Lys978Gln
ENST00000361715.6:c.2824A>C	ENSP00000355311.2:p.Lys942Gln
ENST00000361828.6:c.2821A>C	ENSP00000354429.2:p.Lys941Gln
ENST00000361908.7:c.2878A>C	ENSP00000354681.3:p.Lys960Gln
ENST00000392438.7:c.2767A>C	ENSP00000376233.3:p.Lys923Gln
ENST00000429164.1:c.54A>C
ENST00000445863.1:c.343A>C	ENSP00000398358.1:p.Lys115Gln
NM_015560.2:c.2767A>C , LRG_337t1:c.2767A>C	NP_056375.2:p.Lys923Gln
NM_130831.2:c.2659A>C	NP_570844.1:p.Lys887Gln
NM_130832.2:c.2713A>C	NP_570845.1:p.Lys905Gln
NM_130833.2:c.2770A>C	NP_570846.1:p.Lys924Gln
NM_130834.2:c.2821A>C	NP_570847.2:p.Lys941Gln
NM_130835.2:c.2824A>C	NP_570848.1:p.Lys942Gln
NM_130836.2:c.2878A>C	NP_570849.2:p.Lys960Gln
NM_130837.2:c.2932A>C , LRG_337t2:c.2932A>C	NP_570850.2:p.Lys978Gln
XM_011512863.1:c.2932A>C	XP_011511165.1:p.Lys978Gln
XM_011512864.1:c.2878A>C	XP_011511166.1:p.Lys960Gln
XM_011512865.1:c.2821A>C	XP_011511167.1:p.Lys941Gln
XM_011512866.1:c.2770A>C	XP_011511168.1:p.Lys924Gln
XM_011512867.1:c.2767A>C	XP_011511169.1:p.Lys923Gln
XM_011512868.1:c.2659A>C	XP_011511170.1:p.Lys887Gln
XR_924835.1:n.582+1691T>G
NM_001354663.1:c.2398A>C	NP_001341592.1:p.Lys800Gln
NM_001354664.1:c.2395A>C	NP_001341593.1:p.Lys799Gln
XR_001740158.2:n.3186A>C
XR_001740159.2:n.3021A>C
XR_001741072.1:n.600+1691T>G
XR_001741074.1:n.475+3579T>G
XR_924835.2:n.600+1691T>G
NM_001354663.2:c.2398A>C	NP_001341592.1:p.Lys800Gln
NM_001354664.2:c.2395A>C	NP_001341593.1:p.Lys799Gln
NM_130831.3:c.2659A>C	NP_570844.1:p.Lys887Gln
NM_130832.3:c.2713A>C	NP_570845.1:p.Lys905Gln
NM_130834.3:c.2821A>C	NP_570847.2:p.Lys941Gln
NM_130836.3:c.2878A>C	NP_570849.2:p.Lys960Gln
NM_015560.3:c.2767A>C	NP_056375.2:p.Lys923Gln
NM_130833.3:c.2770A>C	NP_570846.1:p.Lys924Gln
NM_130835.3:c.2824A>C	NP_570848.1:p.Lys942Gln
NM_130837.3:c.2932A>C MANE Select	NP_570850.2:p.Lys978Gln