Canonical Allele Identifier: CA355789429

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193361231A>T (hg19) ; chr3:g.193643442A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643442A>T , CM000665.2:g.193643442A>T	GRCh38
NC_000003.11:g.193361231A>T , CM000665.1:g.193361231A>T	GRCh37
NC_000003.10:g.194843925A>T	NCBI36
NG_011605.1:g.55299A>T , LRG_337:g.55299A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1375A>T MANE Select	ENSP00000355324.2:p.Asn459Tyr
ENST00000361828.7:c.1210A>T	ENSP00000354429.3:p.Asn404Tyr
ENST00000361908.8:c.1321A>T	ENSP00000354681.3:p.Asn441Tyr
ENST00000392436.7:c.1210A>T	ENSP00000376231.3:p.Asn404Tyr
ENST00000392437.6:c.1264A>T	ENSP00000376232.2:p.Asn422Tyr
ENST00000642289.1:c.1149A>T
ENST00000642445.1:c.1210A>T	ENSP00000495535.1:p.Asn404Tyr
ENST00000642593.1:c.1210A>T	ENSP00000494273.1:p.Asn404Tyr
ENST00000643329.1:c.892A>T	ENSP00000493673.1:p.Asn298Tyr
ENST00000643737.1:c.*1291A>T	ENSP00000494210.1:n.*1291A>T
ENST00000644595.1:c.1210A>T	ENSP00000494121.1:p.Asn404Tyr
ENST00000644629.1:c.870A>T
ENST00000644841.1:c.838A>T	ENSP00000493988.1:p.Asn280Tyr
ENST00000644959.1:c.1179A>T
ENST00000645553.1:c.1225A>T	ENSP00000494725.1:p.Asn409Tyr
ENST00000646085.1:c.*688A>T	ENSP00000494509.1:n.*688A>T
ENST00000646277.1:c.1375A>T	ENSP00000495289.1:p.Asn459Tyr
ENST00000646544.1:c.198A>T
ENST00000646699.1:c.1149A>T
ENST00000646793.1:c.1102A>T	ENSP00000494512.1:p.Asn368Tyr
ENST00000361150.6:c.1213A>T	ENSP00000354781.2:p.Asn405Tyr
ENST00000361510.6:c.1375A>T	ENSP00000355324.2:p.Asn459Tyr
ENST00000361715.6:c.1267A>T	ENSP00000355311.2:p.Asn423Tyr
ENST00000361828.6:c.1264A>T	ENSP00000354429.2:p.Asn422Tyr
ENST00000361908.7:c.1321A>T	ENSP00000354681.3:p.Asn441Tyr
ENST00000392438.7:c.1210A>T	ENSP00000376233.3:p.Asn404Tyr
ENST00000475899.1:n.406A>T
NM_015560.2:c.1210A>T , LRG_337t1:c.1210A>T	NP_056375.2:p.Asn404Tyr
NM_130831.2:c.1102A>T	NP_570844.1:p.Asn368Tyr
NM_130832.2:c.1156A>T	NP_570845.1:p.Asn386Tyr
NM_130833.2:c.1213A>T	NP_570846.1:p.Asn405Tyr
NM_130834.2:c.1264A>T	NP_570847.2:p.Asn422Tyr
NM_130835.2:c.1267A>T	NP_570848.1:p.Asn423Tyr
NM_130836.2:c.1321A>T	NP_570849.2:p.Asn441Tyr
NM_130837.2:c.1375A>T , LRG_337t2:c.1375A>T	NP_570850.2:p.Asn459Tyr
XM_011512863.1:c.1375A>T	XP_011511165.1:p.Asn459Tyr
XM_011512864.1:c.1321A>T	XP_011511166.1:p.Asn441Tyr
XM_011512865.1:c.1264A>T	XP_011511167.1:p.Asn422Tyr
XM_011512866.1:c.1213A>T	XP_011511168.1:p.Asn405Tyr
XM_011512867.1:c.1210A>T	XP_011511169.1:p.Asn404Tyr
XM_011512868.1:c.1102A>T	XP_011511170.1:p.Asn368Tyr
XM_011512869.1:c.1375A>T	XP_011511171.1:p.Asn459Tyr
NM_001354663.1:c.841A>T	NP_001341592.1:p.Asn281Tyr
NM_001354664.1:c.838A>T	NP_001341593.1:p.Asn280Tyr
XR_001740158.2:n.1604A>T
XR_001740159.2:n.1439A>T
NM_001354663.2:c.841A>T	NP_001341592.1:p.Asn281Tyr
NM_001354664.2:c.838A>T	NP_001341593.1:p.Asn280Tyr
NM_130831.3:c.1102A>T	NP_570844.1:p.Asn368Tyr
NM_130832.3:c.1156A>T	NP_570845.1:p.Asn386Tyr
NM_130834.3:c.1264A>T	NP_570847.2:p.Asn422Tyr
NM_130836.3:c.1321A>T	NP_570849.2:p.Asn441Tyr
NM_015560.3:c.1210A>T	NP_056375.2:p.Asn404Tyr
NM_130833.3:c.1213A>T	NP_570846.1:p.Asn405Tyr
NM_130835.3:c.1267A>T	NP_570848.1:p.Asn423Tyr
NM_130837.3:c.1375A>T MANE Select	NP_570850.2:p.Asn459Tyr