Canonical Allele Identifier: CA355790731

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1909243
• ClinVar RCV Id: RCV002600167
• dbSNP Id: rs1465904230
• gnomAD v2: 3-193365909-C-T
• gnomAD v4: 3-193648120-C-T
• COSMIC: COSM4653671
• MyVariant Identifiers: chr3:g.193365909C>T (hg19) ; chr3:g.193648120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193648120C>T , CM000665.2:g.193648120C>T	GRCh38
NC_000003.11:g.193365909C>T , CM000665.1:g.193365909C>T	GRCh37
NC_000003.10:g.194848603C>T	NCBI36
NG_011605.1:g.59977C>T , LRG_337:g.59977C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1921C>T MANE Select	ENSP00000355324.2:p.Arg641Trp
ENST00000361828.7:c.1756C>T	ENSP00000354429.3:p.Arg586Trp
ENST00000361908.8:c.1867C>T	ENSP00000354681.3:p.Arg623Trp
ENST00000392436.7:c.1756C>T	ENSP00000376231.3:p.Arg586Trp
ENST00000392437.6:c.1810C>T	ENSP00000376232.2:p.Arg604Trp
ENST00000642289.1:c.1695C>T
ENST00000642445.1:c.1756C>T	ENSP00000495535.1:p.Arg586Trp
ENST00000642593.1:c.1706-675C>T	ENSP00000494273.1:n.1706-675C>T
ENST00000643329.1:c.1438C>T	ENSP00000493673.1:p.Arg480Trp
ENST00000643737.1:c.*1837C>T	ENSP00000494210.1:n.*1837C>T
ENST00000644595.1:c.1756C>T	ENSP00000494121.1:p.Arg586Trp
ENST00000644629.1:c.1343C>T
ENST00000644841.1:c.*240C>T	ENSP00000493988.1:n.*240C>T
ENST00000644959.1:c.1725C>T
ENST00000645553.1:c.1771C>T	ENSP00000494725.1:p.Arg591Trp
ENST00000646085.1:c.*1234C>T	ENSP00000494509.1:n.*1234C>T
ENST00000646277.1:c.*357C>T	ENSP00000495289.1:n.*357C>T
ENST00000646544.1:c.744C>T
ENST00000646699.1:c.1695C>T
ENST00000646793.1:c.1648C>T	ENSP00000494512.1:p.Arg550Trp
ENST00000361150.6:c.1759C>T	ENSP00000354781.2:p.Arg587Trp
ENST00000361510.6:c.1921C>T	ENSP00000355324.2:p.Arg641Trp
ENST00000361715.6:c.1813C>T	ENSP00000355311.2:p.Arg605Trp
ENST00000361828.6:c.1810C>T	ENSP00000354429.2:p.Arg604Trp
ENST00000361908.7:c.1867C>T	ENSP00000354681.3:p.Arg623Trp
ENST00000392438.7:c.1756C>T	ENSP00000376233.3:p.Arg586Trp
ENST00000483516.1:n.254C>T
NM_015560.2:c.1756C>T , LRG_337t1:c.1756C>T	NP_056375.2:p.Arg586Trp
NM_130831.2:c.1648C>T	NP_570844.1:p.Arg550Trp
NM_130832.2:c.1702C>T	NP_570845.1:p.Arg568Trp
NM_130833.2:c.1759C>T	NP_570846.1:p.Arg587Trp
NM_130834.2:c.1810C>T	NP_570847.2:p.Arg604Trp
NM_130835.2:c.1813C>T	NP_570848.1:p.Arg605Trp
NM_130836.2:c.1867C>T	NP_570849.2:p.Arg623Trp
NM_130837.2:c.1921C>T , LRG_337t2:c.1921C>T	NP_570850.2:p.Arg641Trp
XM_011512863.1:c.1921C>T	XP_011511165.1:p.Arg641Trp
XM_011512864.1:c.1867C>T	XP_011511166.1:p.Arg623Trp
XM_011512865.1:c.1810C>T	XP_011511167.1:p.Arg604Trp
XM_011512866.1:c.1759C>T	XP_011511168.1:p.Arg587Trp
XM_011512867.1:c.1756C>T	XP_011511169.1:p.Arg586Trp
XM_011512868.1:c.1648C>T	XP_011511170.1:p.Arg550Trp
XM_011512869.1:c.1921C>T	XP_011511171.1:p.Arg641Trp
XR_924835.1:n.583-810G>A
NM_001354663.1:c.1387C>T	NP_001341592.1:p.Arg463Trp
NM_001354664.1:c.1384C>T	NP_001341593.1:p.Arg462Trp
XR_001740158.2:n.2150C>T
XR_001740159.2:n.1985C>T
XR_001741074.1:n.476-810G>A
XR_924835.2:n.601-810G>A
NM_001354663.2:c.1387C>T	NP_001341592.1:p.Arg463Trp
NM_001354664.2:c.1384C>T	NP_001341593.1:p.Arg462Trp
NM_130831.3:c.1648C>T	NP_570844.1:p.Arg550Trp
NM_130832.3:c.1702C>T	NP_570845.1:p.Arg568Trp
NM_130834.3:c.1810C>T	NP_570847.2:p.Arg604Trp
NM_130836.3:c.1867C>T	NP_570849.2:p.Arg623Trp
NM_015560.3:c.1756C>T	NP_056375.2:p.Arg586Trp
NM_130833.3:c.1759C>T	NP_570846.1:p.Arg587Trp
NM_130835.3:c.1813C>T	NP_570848.1:p.Arg605Trp
NM_130837.3:c.1921C>T MANE Select	NP_570850.2:p.Arg641Trp