Canonical Allele Identifier: CA355792895

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193377314G>C (hg19) ; chr3:g.193659525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659525G>C , CM000665.2:g.193659525G>C	GRCh38
NC_000003.11:g.193377314G>C , CM000665.1:g.193377314G>C	GRCh37
NC_000003.10:g.194860008G>C	NCBI36
NG_011605.1:g.71382G>C , LRG_337:g.71382G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2484G>C MANE Select	ENSP00000355324.2:p.Lys828Asn
ENST00000361828.7:c.2319G>C	ENSP00000354429.3:p.Lys773Asn
ENST00000361908.8:c.2430G>C	ENSP00000354681.3:p.Lys810Asn
ENST00000392436.7:c.2319G>C	ENSP00000376231.3:p.Lys773Asn
ENST00000392437.6:c.2373G>C	ENSP00000376232.2:p.Lys791Asn
ENST00000642289.1:c.2258G>C
ENST00000642445.1:c.2319G>C	ENSP00000495535.1:p.Lys773Asn
ENST00000642593.1:c.*544G>C	ENSP00000494273.1:n.*544G>C
ENST00000643329.1:c.2001G>C	ENSP00000493673.1:p.Lys667Asn
ENST00000643737.1:c.*2400G>C	ENSP00000494210.1:n.*2400G>C
ENST00000644595.1:c.2319G>C	ENSP00000494121.1:p.Lys773Asn
ENST00000644629.1:c.1906G>C
ENST00000644841.1:c.*803G>C	ENSP00000493988.1:n.*803G>C
ENST00000644959.1:c.2313G>C
ENST00000645553.1:c.2334G>C	ENSP00000494725.1:p.Lys778Asn
ENST00000646085.1:c.*1797G>C	ENSP00000494509.1:n.*1797G>C
ENST00000646277.1:c.*920G>C	ENSP00000495289.1:n.*920G>C
ENST00000646544.1:c.1307G>C
ENST00000646699.1:c.2258G>C
ENST00000646793.1:c.2211G>C	ENSP00000494512.1:p.Lys737Asn
ENST00000361150.6:c.2322G>C	ENSP00000354781.2:p.Lys774Asn
ENST00000361510.6:c.2484G>C	ENSP00000355324.2:p.Lys828Asn
ENST00000361715.6:c.2376G>C	ENSP00000355311.2:p.Lys792Asn
ENST00000361828.6:c.2373G>C	ENSP00000354429.2:p.Lys791Asn
ENST00000361908.7:c.2430G>C	ENSP00000354681.3:p.Lys810Asn
ENST00000392438.7:c.2319G>C	ENSP00000376233.3:p.Lys773Asn
NM_015560.2:c.2319G>C , LRG_337t1:c.2319G>C	NP_056375.2:p.Lys773Asn
NM_130831.2:c.2211G>C	NP_570844.1:p.Lys737Asn
NM_130832.2:c.2265G>C	NP_570845.1:p.Lys755Asn
NM_130833.2:c.2322G>C	NP_570846.1:p.Lys774Asn
NM_130834.2:c.2373G>C	NP_570847.2:p.Lys791Asn
NM_130835.2:c.2376G>C	NP_570848.1:p.Lys792Asn
NM_130836.2:c.2430G>C	NP_570849.2:p.Lys810Asn
NM_130837.2:c.2484G>C , LRG_337t2:c.2484G>C	NP_570850.2:p.Lys828Asn
XM_011512863.1:c.2484G>C	XP_011511165.1:p.Lys828Asn
XM_011512864.1:c.2430G>C	XP_011511166.1:p.Lys810Asn
XM_011512865.1:c.2373G>C	XP_011511167.1:p.Lys791Asn
XM_011512866.1:c.2322G>C	XP_011511168.1:p.Lys774Asn
XM_011512867.1:c.2319G>C	XP_011511169.1:p.Lys773Asn
XM_011512868.1:c.2211G>C	XP_011511170.1:p.Lys737Asn
XR_924835.1:n.582+9395C>G
NM_001354663.1:c.1950G>C	NP_001341592.1:p.Lys650Asn
NM_001354664.1:c.1947G>C	NP_001341593.1:p.Lys649Asn
XR_001740158.2:n.2738G>C
XR_001740159.2:n.2573G>C
XR_001741074.1:n.475+11283C>G
XR_924835.2:n.600+9395C>G
NM_001354663.2:c.1950G>C	NP_001341592.1:p.Lys650Asn
NM_001354664.2:c.1947G>C	NP_001341593.1:p.Lys649Asn
NM_130831.3:c.2211G>C	NP_570844.1:p.Lys737Asn
NM_130832.3:c.2265G>C	NP_570845.1:p.Lys755Asn
NM_130834.3:c.2373G>C	NP_570847.2:p.Lys791Asn
NM_130836.3:c.2430G>C	NP_570849.2:p.Lys810Asn
NM_015560.3:c.2319G>C	NP_056375.2:p.Lys773Asn
NM_130833.3:c.2322G>C	NP_570846.1:p.Lys774Asn
NM_130835.3:c.2376G>C	NP_570848.1:p.Lys792Asn
NM_130837.3:c.2484G>C MANE Select	NP_570850.2:p.Lys828Asn