Canonical Allele Identifier: CA904568806

Gene: OPA1

Linked Data

• dbSNP Id: rs1243704916
• MyVariant Identifiers: chr3:g.193360825del (hg19) ; chr3:g.193643036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643037del , CM000665.2:g.193643037del	GRCh38
NC_000003.11:g.193360826del , CM000665.1:g.193360826del	GRCh37
NC_000003.10:g.194843520del	NCBI36
NG_011605.1:g.54894del , LRG_337:g.54894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1293del MANE Select	ENSP00000355324.2:p.Val432LeufsTer8
ENST00000361828.7:c.1128del	ENSP00000354429.3:p.Val377LeufsTer8
ENST00000361908.8:c.1239del	ENSP00000354681.3:p.Val414LeufsTer8
ENST00000392436.7:c.1128del	ENSP00000376231.3:p.Val377LeufsTer8
ENST00000392437.6:c.1182del	ENSP00000376232.2:p.Val395LeufsTer8
ENST00000642289.1:c.1080-336del
ENST00000642445.1:c.1128del	ENSP00000495535.1:p.Val377LeufsTer8
ENST00000642593.1:c.1128del	ENSP00000494273.1:p.Val377LeufsTer8
ENST00000643329.1:c.810del	ENSP00000493673.1:p.Val271LeufsTer8
ENST00000643737.1:c.*1209del	ENSP00000494210.1:n.*1209del
ENST00000644595.1:c.1128del	ENSP00000494121.1:p.Val377LeufsTer8
ENST00000644629.1:c.788del
ENST00000644841.1:c.756del	ENSP00000493988.1:p.Val253LeufsTer8
ENST00000644959.1:c.1097del
ENST00000645553.1:c.1143del	ENSP00000494725.1:p.Val382LeufsTer8
ENST00000646085.1:c.*606del	ENSP00000494509.1:n.*606del
ENST00000646277.1:c.1293del	ENSP00000495289.1:p.Val432LeufsTer8
ENST00000646544.1:c.128+192del
ENST00000646699.1:c.1080-336del
ENST00000646793.1:c.1020del	ENSP00000494512.1:p.Val341LeufsTer8
ENST00000361150.6:c.1131del	ENSP00000354781.2:p.Val378LeufsTer8
ENST00000361510.6:c.1293del	ENSP00000355324.2:p.Val432LeufsTer8
ENST00000361715.6:c.1185del	ENSP00000355311.2:p.Val396LeufsTer8
ENST00000361828.6:c.1182del	ENSP00000354429.2:p.Val395LeufsTer8
ENST00000361908.7:c.1239del	ENSP00000354681.3:p.Val414LeufsTer8
ENST00000392438.7:c.1128del	ENSP00000376233.3:p.Val377LeufsTer8
ENST00000475899.1:n.324del
NM_015560.2:c.1128del , LRG_337t1:c.1128del	NP_056375.2:p.Val377LeufsTer8
NM_130831.2:c.1020del	NP_570844.1:p.Val341LeufsTer8
NM_130832.2:c.1074del	NP_570845.1:p.Val359LeufsTer8
NM_130833.2:c.1131del	NP_570846.1:p.Val378LeufsTer8
NM_130834.2:c.1182del	NP_570847.2:p.Val395LeufsTer8
NM_130835.2:c.1185del	NP_570848.1:p.Val396LeufsTer8
NM_130836.2:c.1239del	NP_570849.2:p.Val414LeufsTer8
NM_130837.2:c.1293del , LRG_337t2:c.1293del	NP_570850.2:p.Val432LeufsTer8
XM_011512863.1:c.1293del	XP_011511165.1:p.Val432LeufsTer8
XM_011512864.1:c.1239del	XP_011511166.1:p.Val414LeufsTer8
XM_011512865.1:c.1182del	XP_011511167.1:p.Val395LeufsTer8
XM_011512866.1:c.1131del	XP_011511168.1:p.Val378LeufsTer8
XM_011512867.1:c.1128del	XP_011511169.1:p.Val377LeufsTer8
XM_011512868.1:c.1020del	XP_011511170.1:p.Val341LeufsTer8
XM_011512869.1:c.1293del	XP_011511171.1:p.Val432LeufsTer8
NM_001354663.1:c.759del	NP_001341592.1:p.Val254LeufsTer8
NM_001354664.1:c.756del	NP_001341593.1:p.Val253LeufsTer8
XR_001740158.2:n.1522del
XR_001740159.2:n.1357del
NM_001354663.2:c.759del	NP_001341592.1:p.Val254LeufsTer8
NM_001354664.2:c.756del	NP_001341593.1:p.Val253LeufsTer8
NM_130831.3:c.1020del	NP_570844.1:p.Val341LeufsTer8
NM_130832.3:c.1074del	NP_570845.1:p.Val359LeufsTer8
NM_130834.3:c.1182del	NP_570847.2:p.Val395LeufsTer8
NM_130836.3:c.1239del	NP_570849.2:p.Val414LeufsTer8
NM_015560.3:c.1128del	NP_056375.2:p.Val377LeufsTer8
NM_130833.3:c.1131del	NP_570846.1:p.Val378LeufsTer8
NM_130835.3:c.1185del	NP_570848.1:p.Val396LeufsTer8
NM_130837.3:c.1293del MANE Select	NP_570850.2:p.Val432LeufsTer8