Canonical Allele Identifier: CA355789759

Gene: OPA1

Linked Data

• ClinVar Variation Id: 802041
• ClinVar RCV Id: RCV000987381 ; RCV002549677
• dbSNP Id: rs1577244261
• MyVariant Identifiers: chr3:g.193361797C>G (hg19) ; chr3:g.193644008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193644008C>G , CM000665.2:g.193644008C>G	GRCh38
NC_000003.11:g.193361797C>G , CM000665.1:g.193361797C>G	GRCh37
NC_000003.10:g.194844491C>G	NCBI36
NG_011605.1:g.55865C>G , LRG_337:g.55865C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1511C>G MANE Select	ENSP00000355324.2:p.Thr504Arg
ENST00000361828.7:c.1346C>G	ENSP00000354429.3:p.Thr449Arg
ENST00000361908.8:c.1457C>G	ENSP00000354681.3:p.Thr486Arg
ENST00000392436.7:c.1346C>G	ENSP00000376231.3:p.Thr449Arg
ENST00000392437.6:c.1400C>G	ENSP00000376232.2:p.Thr467Arg
ENST00000642289.1:c.1285C>G
ENST00000642445.1:c.1346C>G	ENSP00000495535.1:p.Thr449Arg
ENST00000642593.1:c.1346C>G	ENSP00000494273.1:p.Thr449Arg
ENST00000643329.1:c.1028C>G	ENSP00000493673.1:p.Thr343Arg
ENST00000643737.1:c.*1427C>G	ENSP00000494210.1:n.*1427C>G
ENST00000644595.1:c.1346C>G	ENSP00000494121.1:p.Thr449Arg
ENST00000644629.1:c.1006C>G
ENST00000644841.1:c.974C>G	ENSP00000493988.1:p.Thr325Arg
ENST00000644959.1:c.1315C>G
ENST00000645553.1:c.1361C>G	ENSP00000494725.1:p.Thr454Arg
ENST00000646085.1:c.*824C>G	ENSP00000494509.1:n.*824C>G
ENST00000646277.1:c.1534C>G	ENSP00000495289.1:p.Gln512Glu
ENST00000646544.1:c.334C>G
ENST00000646699.1:c.1285C>G
ENST00000646793.1:c.1238C>G	ENSP00000494512.1:p.Thr413Arg
ENST00000361150.6:c.1349C>G	ENSP00000354781.2:p.Thr450Arg
ENST00000361510.6:c.1511C>G	ENSP00000355324.2:p.Thr504Arg
ENST00000361715.6:c.1403C>G	ENSP00000355311.2:p.Thr468Arg
ENST00000361828.6:c.1400C>G	ENSP00000354429.2:p.Thr467Arg
ENST00000361908.7:c.1457C>G	ENSP00000354681.3:p.Thr486Arg
ENST00000392438.7:c.1346C>G	ENSP00000376233.3:p.Thr449Arg
ENST00000475899.1:n.542C>G
NM_015560.2:c.1346C>G , LRG_337t1:c.1346C>G	NP_056375.2:p.Thr449Arg
NM_130831.2:c.1238C>G	NP_570844.1:p.Thr413Arg
NM_130832.2:c.1292C>G	NP_570845.1:p.Thr431Arg
NM_130833.2:c.1349C>G	NP_570846.1:p.Thr450Arg
NM_130834.2:c.1400C>G	NP_570847.2:p.Thr467Arg
NM_130835.2:c.1403C>G	NP_570848.1:p.Thr468Arg
NM_130836.2:c.1457C>G	NP_570849.2:p.Thr486Arg
NM_130837.2:c.1511C>G , LRG_337t2:c.1511C>G	NP_570850.2:p.Thr504Arg
XM_011512863.1:c.1511C>G	XP_011511165.1:p.Thr504Arg
XM_011512864.1:c.1457C>G	XP_011511166.1:p.Thr486Arg
XM_011512865.1:c.1400C>G	XP_011511167.1:p.Thr467Arg
XM_011512866.1:c.1349C>G	XP_011511168.1:p.Thr450Arg
XM_011512867.1:c.1346C>G	XP_011511169.1:p.Thr449Arg
XM_011512868.1:c.1238C>G	XP_011511170.1:p.Thr413Arg
XM_011512869.1:c.1511C>G	XP_011511171.1:p.Thr504Arg
NM_001354663.1:c.977C>G	NP_001341592.1:p.Thr326Arg
NM_001354664.1:c.974C>G	NP_001341593.1:p.Thr325Arg
XR_001740158.2:n.1740C>G
XR_001740159.2:n.1575C>G
NM_001354663.2:c.977C>G	NP_001341592.1:p.Thr326Arg
NM_001354664.2:c.974C>G	NP_001341593.1:p.Thr325Arg
NM_130831.3:c.1238C>G	NP_570844.1:p.Thr413Arg
NM_130832.3:c.1292C>G	NP_570845.1:p.Thr431Arg
NM_130834.3:c.1400C>G	NP_570847.2:p.Thr467Arg
NM_130836.3:c.1457C>G	NP_570849.2:p.Thr486Arg
NM_015560.3:c.1346C>G	NP_056375.2:p.Thr449Arg
NM_130833.3:c.1349C>G	NP_570846.1:p.Thr450Arg
NM_130835.3:c.1403C>G	NP_570848.1:p.Thr468Arg
NM_130837.3:c.1511C>G MANE Select	NP_570850.2:p.Thr504Arg