Canonical Allele Identifier: CA2759709

Gene: OPA1

Linked Data

• dbSNP Id: rs372766468
• ExAC: 3:193380722 T / C
• gnomAD v2: 3-193380722-T-C
• gnomAD v3: 3-193662933-T-C
• gnomAD v4: 3-193662933-T-C
• MyVariant Identifiers: chr3:g.193380722T>C (hg19) ; chr3:g.193662933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662933T>C , CM000665.2:g.193662933T>C	GRCh38
NC_000003.11:g.193380722T>C , CM000665.1:g.193380722T>C	GRCh37
NC_000003.10:g.194863416T>C	NCBI36
NG_011605.1:g.74790T>C , LRG_337:g.74790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2632T>C MANE Select	ENSP00000355324.2:p.Ser878Pro
ENST00000361828.7:c.2467T>C	ENSP00000354429.3:p.Ser823Pro
ENST00000361908.8:c.2578T>C	ENSP00000354681.3:p.Ser860Pro
ENST00000392436.7:c.2467T>C	ENSP00000376231.3:p.Ser823Pro
ENST00000392437.6:c.2521T>C	ENSP00000376232.2:p.Ser841Pro
ENST00000642289.1:c.2406T>C
ENST00000642445.1:c.2467T>C	ENSP00000495535.1:p.Ser823Pro
ENST00000642593.1:c.*692T>C	ENSP00000494273.1:n.*692T>C
ENST00000643329.1:c.2149T>C	ENSP00000493673.1:p.Ser717Pro
ENST00000643737.1:c.*2548T>C	ENSP00000494210.1:n.*2548T>C
ENST00000644595.1:c.2467T>C	ENSP00000494121.1:p.Ser823Pro
ENST00000644629.1:c.2054T>C
ENST00000644841.1:c.*951T>C	ENSP00000493988.1:n.*951T>C
ENST00000644959.1:c.2461T>C
ENST00000645553.1:c.2482T>C	ENSP00000494725.1:p.Ser828Pro
ENST00000646085.1:c.*1945T>C	ENSP00000494509.1:n.*1945T>C
ENST00000646277.1:c.*1068T>C	ENSP00000495289.1:n.*1068T>C
ENST00000646544.1:c.1455T>C
ENST00000646699.1:c.2406T>C
ENST00000646793.1:c.2359T>C	ENSP00000494512.1:p.Ser787Pro
ENST00000361150.6:c.2470T>C	ENSP00000354781.2:p.Ser824Pro
ENST00000361510.6:c.2632T>C	ENSP00000355324.2:p.Ser878Pro
ENST00000361715.6:c.2524T>C	ENSP00000355311.2:p.Ser842Pro
ENST00000361828.6:c.2521T>C	ENSP00000354429.2:p.Ser841Pro
ENST00000361908.7:c.2578T>C	ENSP00000354681.3:p.Ser860Pro
ENST00000392438.7:c.2467T>C	ENSP00000376233.3:p.Ser823Pro
ENST00000445863.1:c.43T>C	ENSP00000398358.1:p.Ser15Pro
NM_015560.2:c.2467T>C , LRG_337t1:c.2467T>C	NP_056375.2:p.Ser823Pro
NM_130831.2:c.2359T>C	NP_570844.1:p.Ser787Pro
NM_130832.2:c.2413T>C	NP_570845.1:p.Ser805Pro
NM_130833.2:c.2470T>C	NP_570846.1:p.Ser824Pro
NM_130834.2:c.2521T>C	NP_570847.2:p.Ser841Pro
NM_130835.2:c.2524T>C	NP_570848.1:p.Ser842Pro
NM_130836.2:c.2578T>C	NP_570849.2:p.Ser860Pro
NM_130837.2:c.2632T>C , LRG_337t2:c.2632T>C	NP_570850.2:p.Ser878Pro
XM_011512863.1:c.2632T>C	XP_011511165.1:p.Ser878Pro
XM_011512864.1:c.2578T>C	XP_011511166.1:p.Ser860Pro
XM_011512865.1:c.2521T>C	XP_011511167.1:p.Ser841Pro
XM_011512866.1:c.2470T>C	XP_011511168.1:p.Ser824Pro
XM_011512867.1:c.2467T>C	XP_011511169.1:p.Ser823Pro
XM_011512868.1:c.2359T>C	XP_011511170.1:p.Ser787Pro
XR_924835.1:n.582+5987A>G
NM_001354663.1:c.2098T>C	NP_001341592.1:p.Ser700Pro
NM_001354664.1:c.2095T>C	NP_001341593.1:p.Ser699Pro
XR_001740158.2:n.2886T>C
XR_001740159.2:n.2721T>C
XR_001741072.1:n.601-2848A>G
XR_001741074.1:n.475+7875A>G
XR_924835.2:n.600+5987A>G
NM_001354663.2:c.2098T>C	NP_001341592.1:p.Ser700Pro
NM_001354664.2:c.2095T>C	NP_001341593.1:p.Ser699Pro
NM_130831.3:c.2359T>C	NP_570844.1:p.Ser787Pro
NM_130832.3:c.2413T>C	NP_570845.1:p.Ser805Pro
NM_130834.3:c.2521T>C	NP_570847.2:p.Ser841Pro
NM_130836.3:c.2578T>C	NP_570849.2:p.Ser860Pro
NM_015560.3:c.2467T>C	NP_056375.2:p.Ser823Pro
NM_130833.3:c.2470T>C	NP_570846.1:p.Ser824Pro
NM_130835.3:c.2524T>C	NP_570848.1:p.Ser842Pro
NM_130837.3:c.2632T>C MANE Select	NP_570850.2:p.Ser878Pro