Canonical Allele Identifier: CA223204

Gene: OPA1

Linked Data

• ClinVar Variation Id: 95710
• ClinVar RCV Id: RCV000174779
• dbSNP Id: rs398124297
• MyVariant Identifiers: chr3:g.193361803del (hg19) ; chr3:g.193361803delT (hg19) ; chr3:g.193644014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193644014del , CM000665.2:g.193644014del	GRCh38
NC_000003.11:g.193361803del , CM000665.1:g.193361803del	GRCh37
NC_000003.10:g.194844497del	NCBI36
NG_011605.1:g.55871del , LRG_337:g.55871del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1517del MANE Select	ENSP00000355324.2:p.Leu506TrpfsTer16
ENST00000361828.7:c.1352del	ENSP00000354429.3:p.Leu451TrpfsTer16
ENST00000361908.8:c.1463del	ENSP00000354681.3:p.Leu488TrpfsTer16
ENST00000392436.7:c.1352del	ENSP00000376231.3:p.Leu451TrpfsTer16
ENST00000392437.6:c.1406del	ENSP00000376232.2:p.Leu469TrpfsTer16
ENST00000642289.1:c.1291del
ENST00000642445.1:c.1352del	ENSP00000495535.1:p.Leu451TrpfsTer16
ENST00000642593.1:c.1352del	ENSP00000494273.1:p.Leu451TrpfsTer16
ENST00000643329.1:c.1034del	ENSP00000493673.1:p.Leu345TrpfsTer16
ENST00000643737.1:c.*1433del	ENSP00000494210.1:n.*1433del
ENST00000644595.1:c.1352del	ENSP00000494121.1:p.Leu451TrpfsTer16
ENST00000644629.1:c.1012del
ENST00000644841.1:c.980del	ENSP00000493988.1:p.Leu327TrpfsTer16
ENST00000644959.1:c.1321del
ENST00000645553.1:c.1367del	ENSP00000494725.1:p.Leu456TrpfsTer16
ENST00000646085.1:c.*830del	ENSP00000494509.1:n.*830del
ENST00000646277.1:c.1540del	ENSP00000495289.1:p.Trp514GlyfsTer?
ENST00000646544.1:c.340del
ENST00000646699.1:c.1291del
ENST00000646793.1:c.1244del	ENSP00000494512.1:p.Leu415TrpfsTer16
ENST00000361150.6:c.1355del	ENSP00000354781.2:p.Leu452TrpfsTer16
ENST00000361510.6:c.1517del	ENSP00000355324.2:p.Leu506TrpfsTer16
ENST00000361715.6:c.1409del	ENSP00000355311.2:p.Leu470TrpfsTer16
ENST00000361828.6:c.1406del	ENSP00000354429.2:p.Leu469TrpfsTer16
ENST00000361908.7:c.1463del	ENSP00000354681.3:p.Leu488TrpfsTer16
ENST00000392438.7:c.1352del	ENSP00000376233.3:p.Leu451TrpfsTer16
ENST00000475899.1:n.548del
NM_015560.2:c.1352del , LRG_337t1:c.1352del	NP_056375.2:p.Leu451TrpfsTer16
NM_130831.2:c.1244del	NP_570844.1:p.Leu415TrpfsTer16
NM_130832.2:c.1298del	NP_570845.1:p.Leu433TrpfsTer16
NM_130833.2:c.1355del	NP_570846.1:p.Leu452TrpfsTer16
NM_130834.2:c.1406del	NP_570847.2:p.Leu469TrpfsTer16
NM_130835.2:c.1409del	NP_570848.1:p.Leu470TrpfsTer16
NM_130836.2:c.1463del	NP_570849.2:p.Leu488TrpfsTer16
NM_130837.2:c.1517del , LRG_337t2:c.1517del	NP_570850.2:p.Leu506TrpfsTer16
XM_011512863.1:c.1517del	XP_011511165.1:p.Leu506TrpfsTer16
XM_011512864.1:c.1463del	XP_011511166.1:p.Leu488TrpfsTer16
XM_011512865.1:c.1406del	XP_011511167.1:p.Leu469TrpfsTer16
XM_011512866.1:c.1355del	XP_011511168.1:p.Leu452TrpfsTer16
XM_011512867.1:c.1352del	XP_011511169.1:p.Leu451TrpfsTer16
XM_011512868.1:c.1244del	XP_011511170.1:p.Leu415TrpfsTer16
XM_011512869.1:c.1517del	XP_011511171.1:p.Leu506TrpfsTer16
NM_001354663.1:c.983del	NP_001341592.1:p.Leu328TrpfsTer16
NM_001354664.1:c.980del	NP_001341593.1:p.Leu327TrpfsTer16
XR_001740158.2:n.1746del
XR_001740159.2:n.1581del
NM_001354663.2:c.983del	NP_001341592.1:p.Leu328TrpfsTer16
NM_001354664.2:c.980del	NP_001341593.1:p.Leu327TrpfsTer16
NM_130831.3:c.1244del	NP_570844.1:p.Leu415TrpfsTer16
NM_130832.3:c.1298del	NP_570845.1:p.Leu433TrpfsTer16
NM_130834.3:c.1406del	NP_570847.2:p.Leu469TrpfsTer16
NM_130836.3:c.1463del	NP_570849.2:p.Leu488TrpfsTer16
NM_015560.3:c.1352del	NP_056375.2:p.Leu451TrpfsTer16
NM_130833.3:c.1355del	NP_570846.1:p.Leu452TrpfsTer16
NM_130835.3:c.1409del	NP_570848.1:p.Leu470TrpfsTer16
NM_130837.3:c.1517del MANE Select	NP_570850.2:p.Leu506TrpfsTer16