Canonical Allele Identifier: CA10575554

Gene: OPA1

Linked Data

• ClinVar Variation Id: 30461
• ClinVar RCV Id: RCV000023415 ; RCV000508898 ; RCV001659726 ; RCV002464072
• dbSNP Id: rs398124298
• MyVariant Identifiers: chr3:g.193364899C>G (hg19) ; chr3:g.193647110C>G (hg38)
• PubMed: PMID:18065439 ; PMID:20157015 ; PMID:28812649

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647110C>G , CM000665.2:g.193647110C>G	GRCh38
NC_000003.11:g.193364899C>G , CM000665.1:g.193364899C>G	GRCh37
NC_000003.10:g.194847593C>G	NCBI36
NG_011605.1:g.58967C>G , LRG_337:g.58967C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1800C>G MANE Select	ENSP00000355324.2:p.Ser600Arg
ENST00000361828.7:c.1635C>G	ENSP00000354429.3:p.Ser545Arg
ENST00000361908.8:c.1746C>G	ENSP00000354681.3:p.Ser582Arg
ENST00000392436.7:c.1635C>G	ENSP00000376231.3:p.Ser545Arg
ENST00000392437.6:c.1689C>G	ENSP00000376232.2:p.Ser563Arg
ENST00000642289.1:c.1574C>G
ENST00000642445.1:c.1635C>G	ENSP00000495535.1:p.Ser545Arg
ENST00000642593.1:c.1635C>G	ENSP00000494273.1:p.Ser545Arg
ENST00000643329.1:c.1317C>G	ENSP00000493673.1:p.Ser439Arg
ENST00000643737.1:c.*1716C>G	ENSP00000494210.1:n.*1716C>G
ENST00000644595.1:c.1635C>G	ENSP00000494121.1:p.Ser545Arg
ENST00000644629.1:c.1222C>G
ENST00000644841.1:c.*119C>G	ENSP00000493988.1:n.*119C>G
ENST00000644959.1:c.1604C>G
ENST00000645553.1:c.1650C>G	ENSP00000494725.1:p.Ser550Arg
ENST00000646085.1:c.*1113C>G	ENSP00000494509.1:n.*1113C>G
ENST00000646277.1:c.*236C>G	ENSP00000495289.1:n.*236C>G
ENST00000646544.1:c.623C>G
ENST00000646699.1:c.1574C>G
ENST00000646793.1:c.1527C>G	ENSP00000494512.1:p.Ser509Arg
ENST00000361150.6:c.1638C>G	ENSP00000354781.2:p.Ser546Arg
ENST00000361510.6:c.1800C>G	ENSP00000355324.2:p.Ser600Arg
ENST00000361715.6:c.1692C>G	ENSP00000355311.2:p.Ser564Arg
ENST00000361828.6:c.1689C>G	ENSP00000354429.2:p.Ser563Arg
ENST00000361908.7:c.1746C>G	ENSP00000354681.3:p.Ser582Arg
ENST00000392438.7:c.1635C>G	ENSP00000376233.3:p.Ser545Arg
ENST00000483516.1:n.133C>G
NM_015560.2:c.1635C>G , LRG_337t1:c.1635C>G	NP_056375.2:p.Ser545Arg
NM_130831.2:c.1527C>G	NP_570844.1:p.Ser509Arg
NM_130832.2:c.1581C>G	NP_570845.1:p.Ser527Arg
NM_130833.2:c.1638C>G	NP_570846.1:p.Ser546Arg
NM_130834.2:c.1689C>G	NP_570847.2:p.Ser563Arg
NM_130835.2:c.1692C>G	NP_570848.1:p.Ser564Arg
NM_130836.2:c.1746C>G	NP_570849.2:p.Ser582Arg
NM_130837.2:c.1800C>G , LRG_337t2:c.1800C>G	NP_570850.2:p.Ser600Arg
XM_011512863.1:c.1800C>G	XP_011511165.1:p.Ser600Arg
XM_011512864.1:c.1746C>G	XP_011511166.1:p.Ser582Arg
XM_011512865.1:c.1689C>G	XP_011511167.1:p.Ser563Arg
XM_011512866.1:c.1638C>G	XP_011511168.1:p.Ser546Arg
XM_011512867.1:c.1635C>G	XP_011511169.1:p.Ser545Arg
XM_011512868.1:c.1527C>G	XP_011511170.1:p.Ser509Arg
XM_011512869.1:c.1800C>G	XP_011511171.1:p.Ser600Arg
NM_001354663.1:c.1266C>G	NP_001341592.1:p.Ser422Arg
NM_001354664.1:c.1263C>G	NP_001341593.1:p.Ser421Arg
XR_001740158.2:n.2029C>G
XR_001740159.2:n.1864C>G
NM_001354663.2:c.1266C>G	NP_001341592.1:p.Ser422Arg
NM_001354664.2:c.1263C>G	NP_001341593.1:p.Ser421Arg
NM_130831.3:c.1527C>G	NP_570844.1:p.Ser509Arg
NM_130832.3:c.1581C>G	NP_570845.1:p.Ser527Arg
NM_130834.3:c.1689C>G	NP_570847.2:p.Ser563Arg
NM_130836.3:c.1746C>G	NP_570849.2:p.Ser582Arg
NM_015560.3:c.1635C>G	NP_056375.2:p.Ser545Arg
NM_130833.3:c.1638C>G	NP_570846.1:p.Ser546Arg
NM_130835.3:c.1692C>G	NP_570848.1:p.Ser564Arg
NM_130837.3:c.1800C>G MANE Select	NP_570850.2:p.Ser600Arg