Canonical Allele Identifier: CA2739265879

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2818174
• ClinVar RCV Id: RCV003713588

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193648108_193648111del , CM000665.2:g.193648108_193648111del	GRCh38
NC_000003.11:g.193365897_193365900del , CM000665.1:g.193365897_193365900del	GRCh37
NC_000003.10:g.194848591_194848594del	NCBI36
NG_011605.1:g.59965_59968del , LRG_337:g.59965_59968del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1909_1912del MANE Select	ENSP00000355324.2:p.Tyr637LeufsTer26
ENST00000361828.7:c.1744_1747del	ENSP00000354429.3:p.Tyr582LeufsTer26
ENST00000361908.8:c.1855_1858del	ENSP00000354681.3:p.Tyr619LeufsTer26
ENST00000392436.7:c.1744_1747del	ENSP00000376231.3:p.Tyr582LeufsTer26
ENST00000392437.6:c.1798_1801del	ENSP00000376232.2:p.Tyr600LeufsTer26
ENST00000642289.1:c.1683_1686del
ENST00000642445.1:c.1744_1747del	ENSP00000495535.1:p.Tyr582LeufsTer26
ENST00000642593.1:c.1706-687_1706-684del	ENSP00000494273.1:n.1706-687_1706-684del
ENST00000643329.1:c.1426_1429del	ENSP00000493673.1:p.Tyr476LeufsTer26
ENST00000643737.1:c.*1825_*1828del	ENSP00000494210.1:n.*1825_*1828del
ENST00000644595.1:c.1744_1747del	ENSP00000494121.1:p.Tyr582LeufsTer26
ENST00000644629.1:c.1331_1334del
ENST00000644841.1:c.*228_*231del	ENSP00000493988.1:n.*228_*231del
ENST00000644959.1:c.1713_1716del
ENST00000645553.1:c.1759_1762del	ENSP00000494725.1:p.Tyr587LeufsTer26
ENST00000646085.1:c.*1222_*1225del	ENSP00000494509.1:n.*1222_*1225del
ENST00000646277.1:c.*345_*348del	ENSP00000495289.1:n.*345_*348del
ENST00000646544.1:c.732_735del
ENST00000646699.1:c.1683_1686del
ENST00000646793.1:c.1636_1639del	ENSP00000494512.1:p.Tyr546LeufsTer26
ENST00000361150.6:c.1747_1750del	ENSP00000354781.2:p.Tyr583LeufsTer26
ENST00000361510.6:c.1909_1912del	ENSP00000355324.2:p.Tyr637LeufsTer26
ENST00000361715.6:c.1801_1804del	ENSP00000355311.2:p.Tyr601LeufsTer26
ENST00000361828.6:c.1798_1801del	ENSP00000354429.2:p.Tyr600LeufsTer26
ENST00000361908.7:c.1855_1858del	ENSP00000354681.3:p.Tyr619LeufsTer26
ENST00000392438.7:c.1744_1747del	ENSP00000376233.3:p.Tyr582LeufsTer26
ENST00000483516.1:n.242_245del
NM_015560.2:c.1744_1747del , LRG_337t1:c.1744_1747del	NP_056375.2:p.Tyr582LeufsTer26
NM_130831.2:c.1636_1639del	NP_570844.1:p.Tyr546LeufsTer26
NM_130832.2:c.1690_1693del	NP_570845.1:p.Tyr564LeufsTer26
NM_130833.2:c.1747_1750del	NP_570846.1:p.Tyr583LeufsTer26
NM_130834.2:c.1798_1801del	NP_570847.2:p.Tyr600LeufsTer26
NM_130835.2:c.1801_1804del	NP_570848.1:p.Tyr601LeufsTer26
NM_130836.2:c.1855_1858del	NP_570849.2:p.Tyr619LeufsTer26
NM_130837.2:c.1909_1912del , LRG_337t2:c.1909_1912del	NP_570850.2:p.Tyr637LeufsTer26
XM_011512863.1:c.1909_1912del	XP_011511165.1:p.Tyr637LeufsTer26
XM_011512864.1:c.1855_1858del	XP_011511166.1:p.Tyr619LeufsTer26
XM_011512865.1:c.1798_1801del	XP_011511167.1:p.Tyr600LeufsTer26
XM_011512866.1:c.1747_1750del	XP_011511168.1:p.Tyr583LeufsTer26
XM_011512867.1:c.1744_1747del	XP_011511169.1:p.Tyr582LeufsTer26
XM_011512868.1:c.1636_1639del	XP_011511170.1:p.Tyr546LeufsTer26
XM_011512869.1:c.1909_1912del	XP_011511171.1:p.Tyr637LeufsTer26
XR_924835.1:n.583-800_583-797del
NM_001354663.1:c.1375_1378del	NP_001341592.1:p.Tyr459LeufsTer26
NM_001354664.1:c.1372_1375del	NP_001341593.1:p.Tyr458LeufsTer26
XR_001740158.2:n.2138_2141del
XR_001740159.2:n.1973_1976del
XR_001741074.1:n.476-800_476-797del
XR_924835.2:n.601-800_601-797del
NM_001354663.2:c.1375_1378del	NP_001341592.1:p.Tyr459LeufsTer26
NM_001354664.2:c.1372_1375del	NP_001341593.1:p.Tyr458LeufsTer26
NM_130831.3:c.1636_1639del	NP_570844.1:p.Tyr546LeufsTer26
NM_130832.3:c.1690_1693del	NP_570845.1:p.Tyr564LeufsTer26
NM_130834.3:c.1798_1801del	NP_570847.2:p.Tyr600LeufsTer26
NM_130836.3:c.1855_1858del	NP_570849.2:p.Tyr619LeufsTer26
NM_015560.3:c.1744_1747del	NP_056375.2:p.Tyr582LeufsTer26
NM_130833.3:c.1747_1750del	NP_570846.1:p.Tyr583LeufsTer26
NM_130835.3:c.1801_1804del	NP_570848.1:p.Tyr601LeufsTer26
NM_130837.3:c.1909_1912del MANE Select	NP_570850.2:p.Tyr637LeufsTer26