Canonical Allele Identifier: CA437437535

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364926A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647137A>G , CM000665.2:g.193647137A>G	GRCh38
NC_000003.11:g.193364926A>G , CM000665.1:g.193364926A>G	GRCh37
NC_000003.10:g.194847620A>G	NCBI36
NG_011605.1:g.58994A>G , LRG_337:g.58994A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1827A>G MANE Select	ENSP00000355324.2:p.Lys609=
ENST00000361828.7:c.1662A>G	ENSP00000354429.3:p.Lys554=
ENST00000361908.8:c.1773A>G	ENSP00000354681.3:p.Lys591=
ENST00000392436.7:c.1662A>G	ENSP00000376231.3:p.Lys554=
ENST00000392437.6:c.1716A>G	ENSP00000376232.2:p.Lys572=
ENST00000642289.1:c.1601A>G
ENST00000642445.1:c.1662A>G	ENSP00000495535.1:p.Lys554=
ENST00000642593.1:c.1662A>G	ENSP00000494273.1:p.Lys554=
ENST00000643329.1:c.1344A>G	ENSP00000493673.1:p.Lys448=
ENST00000643737.1:c.*1743A>G	ENSP00000494210.1:n.*1743A>G
ENST00000644595.1:c.1662A>G	ENSP00000494121.1:p.Lys554=
ENST00000644629.1:c.1249A>G
ENST00000644841.1:c.*146A>G	ENSP00000493988.1:n.*146A>G
ENST00000644959.1:c.1631A>G
ENST00000645553.1:c.1677A>G	ENSP00000494725.1:p.Lys559=
ENST00000646085.1:c.*1140A>G	ENSP00000494509.1:n.*1140A>G
ENST00000646277.1:c.*263A>G	ENSP00000495289.1:n.*263A>G
ENST00000646544.1:c.650A>G
ENST00000646699.1:c.1601A>G
ENST00000646793.1:c.1554A>G	ENSP00000494512.1:p.Lys518=
ENST00000361150.6:c.1665A>G	ENSP00000354781.2:p.Lys555=
ENST00000361510.6:c.1827A>G	ENSP00000355324.2:p.Lys609=
ENST00000361715.6:c.1719A>G	ENSP00000355311.2:p.Lys573=
ENST00000361828.6:c.1716A>G	ENSP00000354429.2:p.Lys572=
ENST00000361908.7:c.1773A>G	ENSP00000354681.3:p.Lys591=
ENST00000392438.7:c.1662A>G	ENSP00000376233.3:p.Lys554=
ENST00000483516.1:n.160A>G
NM_015560.2:c.1662A>G , LRG_337t1:c.1662A>G	NP_056375.2:p.Lys554=
NM_130831.2:c.1554A>G	NP_570844.1:p.Lys518=
NM_130832.2:c.1608A>G	NP_570845.1:p.Lys536=
NM_130833.2:c.1665A>G	NP_570846.1:p.Lys555=
NM_130834.2:c.1716A>G	NP_570847.2:p.Lys572=
NM_130835.2:c.1719A>G	NP_570848.1:p.Lys573=
NM_130836.2:c.1773A>G	NP_570849.2:p.Lys591=
NM_130837.2:c.1827A>G , LRG_337t2:c.1827A>G	NP_570850.2:p.Lys609=
XM_011512863.1:c.1827A>G	XP_011511165.1:p.Lys609=
XM_011512864.1:c.1773A>G	XP_011511166.1:p.Lys591=
XM_011512865.1:c.1716A>G	XP_011511167.1:p.Lys572=
XM_011512866.1:c.1665A>G	XP_011511168.1:p.Lys555=
XM_011512867.1:c.1662A>G	XP_011511169.1:p.Lys554=
XM_011512868.1:c.1554A>G	XP_011511170.1:p.Lys518=
XM_011512869.1:c.1827A>G	XP_011511171.1:p.Lys609=
NM_001354663.1:c.1293A>G	NP_001341592.1:p.Lys431=
NM_001354664.1:c.1290A>G	NP_001341593.1:p.Lys430=
XR_001740158.2:n.2056A>G
XR_001740159.2:n.1891A>G
NM_001354663.2:c.1293A>G	NP_001341592.1:p.Lys431=
NM_001354664.2:c.1290A>G	NP_001341593.1:p.Lys430=
NM_130831.3:c.1554A>G	NP_570844.1:p.Lys518=
NM_130832.3:c.1608A>G	NP_570845.1:p.Lys536=
NM_130834.3:c.1716A>G	NP_570847.2:p.Lys572=
NM_130836.3:c.1773A>G	NP_570849.2:p.Lys591=
NM_015560.3:c.1662A>G	NP_056375.2:p.Lys554=
NM_130833.3:c.1665A>G	NP_570846.1:p.Lys555=
NM_130835.3:c.1719A>G	NP_570848.1:p.Lys573=
NM_130837.3:c.1827A>G MANE Select	NP_570850.2:p.Lys609=