Canonical Allele Identifier: CA355790602

Gene: OPA1

Linked Data

• ClinVar Variation Id: 451142
• ClinVar RCV Id: RCV000521087
• dbSNP Id: rs1553879126
• MyVariant Identifiers: chr3:g.193364967A>G (hg19) ; chr3:g.193647178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647178A>G , CM000665.2:g.193647178A>G	GRCh38
NC_000003.11:g.193364967A>G , CM000665.1:g.193364967A>G	GRCh37
NC_000003.10:g.194847661A>G	NCBI36
NG_011605.1:g.59035A>G , LRG_337:g.59035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1868A>G MANE Select	ENSP00000355324.2:p.Lys623Arg
ENST00000361828.7:c.1703A>G	ENSP00000354429.3:p.Lys568Arg
ENST00000361908.8:c.1814A>G	ENSP00000354681.3:p.Lys605Arg
ENST00000392436.7:c.1703A>G	ENSP00000376231.3:p.Lys568Arg
ENST00000392437.6:c.1757A>G	ENSP00000376232.2:p.Lys586Arg
ENST00000642289.1:c.1642A>G
ENST00000642445.1:c.1703A>G	ENSP00000495535.1:p.Lys568Arg
ENST00000642593.1:c.1703A>G	ENSP00000494273.1:p.Lys568Arg
ENST00000643329.1:c.1385A>G	ENSP00000493673.1:p.Lys462Arg
ENST00000643737.1:c.*1784A>G	ENSP00000494210.1:n.*1784A>G
ENST00000644595.1:c.1703A>G	ENSP00000494121.1:p.Lys568Arg
ENST00000644629.1:c.1290A>G
ENST00000644841.1:c.*187A>G	ENSP00000493988.1:n.*187A>G
ENST00000644959.1:c.1672A>G
ENST00000645553.1:c.1718A>G	ENSP00000494725.1:p.Lys573Arg
ENST00000646085.1:c.*1181A>G	ENSP00000494509.1:n.*1181A>G
ENST00000646277.1:c.*304A>G	ENSP00000495289.1:n.*304A>G
ENST00000646544.1:c.691A>G
ENST00000646699.1:c.1642A>G
ENST00000646793.1:c.1595A>G	ENSP00000494512.1:p.Lys532Arg
ENST00000361150.6:c.1706A>G	ENSP00000354781.2:p.Lys569Arg
ENST00000361510.6:c.1868A>G	ENSP00000355324.2:p.Lys623Arg
ENST00000361715.6:c.1760A>G	ENSP00000355311.2:p.Lys587Arg
ENST00000361828.6:c.1757A>G	ENSP00000354429.2:p.Lys586Arg
ENST00000361908.7:c.1814A>G	ENSP00000354681.3:p.Lys605Arg
ENST00000392438.7:c.1703A>G	ENSP00000376233.3:p.Lys568Arg
ENST00000483516.1:n.201A>G
NM_015560.2:c.1703A>G , LRG_337t1:c.1703A>G	NP_056375.2:p.Lys568Arg
NM_130831.2:c.1595A>G	NP_570844.1:p.Lys532Arg
NM_130832.2:c.1649A>G	NP_570845.1:p.Lys550Arg
NM_130833.2:c.1706A>G	NP_570846.1:p.Lys569Arg
NM_130834.2:c.1757A>G	NP_570847.2:p.Lys586Arg
NM_130835.2:c.1760A>G	NP_570848.1:p.Lys587Arg
NM_130836.2:c.1814A>G	NP_570849.2:p.Lys605Arg
NM_130837.2:c.1868A>G , LRG_337t2:c.1868A>G	NP_570850.2:p.Lys623Arg
XM_011512863.1:c.1868A>G	XP_011511165.1:p.Lys623Arg
XM_011512864.1:c.1814A>G	XP_011511166.1:p.Lys605Arg
XM_011512865.1:c.1757A>G	XP_011511167.1:p.Lys586Arg
XM_011512866.1:c.1706A>G	XP_011511168.1:p.Lys569Arg
XM_011512867.1:c.1703A>G	XP_011511169.1:p.Lys568Arg
XM_011512868.1:c.1595A>G	XP_011511170.1:p.Lys532Arg
XM_011512869.1:c.1868A>G	XP_011511171.1:p.Lys623Arg
NM_001354663.1:c.1334A>G	NP_001341592.1:p.Lys445Arg
NM_001354664.1:c.1331A>G	NP_001341593.1:p.Lys444Arg
XR_001740158.2:n.2097A>G
XR_001740159.2:n.1932A>G
NM_001354663.2:c.1334A>G	NP_001341592.1:p.Lys445Arg
NM_001354664.2:c.1331A>G	NP_001341593.1:p.Lys444Arg
NM_130831.3:c.1595A>G	NP_570844.1:p.Lys532Arg
NM_130832.3:c.1649A>G	NP_570845.1:p.Lys550Arg
NM_130834.3:c.1757A>G	NP_570847.2:p.Lys586Arg
NM_130836.3:c.1814A>G	NP_570849.2:p.Lys605Arg
NM_015560.3:c.1703A>G	NP_056375.2:p.Lys568Arg
NM_130833.3:c.1706A>G	NP_570846.1:p.Lys569Arg
NM_130835.3:c.1760A>G	NP_570848.1:p.Lys587Arg
NM_130837.3:c.1868A>G MANE Select	NP_570850.2:p.Lys623Arg