Canonical Allele Identifier: CA355790502

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364925A>G (hg19) ; chr3:g.193647136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647136A>G , CM000665.2:g.193647136A>G	GRCh38
NC_000003.11:g.193364925A>G , CM000665.1:g.193364925A>G	GRCh37
NC_000003.10:g.194847619A>G	NCBI36
NG_011605.1:g.58993A>G , LRG_337:g.58993A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1826A>G MANE Select	ENSP00000355324.2:p.Lys609Arg
ENST00000361828.7:c.1661A>G	ENSP00000354429.3:p.Lys554Arg
ENST00000361908.8:c.1772A>G	ENSP00000354681.3:p.Lys591Arg
ENST00000392436.7:c.1661A>G	ENSP00000376231.3:p.Lys554Arg
ENST00000392437.6:c.1715A>G	ENSP00000376232.2:p.Lys572Arg
ENST00000642289.1:c.1600A>G
ENST00000642445.1:c.1661A>G	ENSP00000495535.1:p.Lys554Arg
ENST00000642593.1:c.1661A>G	ENSP00000494273.1:p.Lys554Arg
ENST00000643329.1:c.1343A>G	ENSP00000493673.1:p.Lys448Arg
ENST00000643737.1:c.*1742A>G	ENSP00000494210.1:n.*1742A>G
ENST00000644595.1:c.1661A>G	ENSP00000494121.1:p.Lys554Arg
ENST00000644629.1:c.1248A>G
ENST00000644841.1:c.*145A>G	ENSP00000493988.1:n.*145A>G
ENST00000644959.1:c.1630A>G
ENST00000645553.1:c.1676A>G	ENSP00000494725.1:p.Lys559Arg
ENST00000646085.1:c.*1139A>G	ENSP00000494509.1:n.*1139A>G
ENST00000646277.1:c.*262A>G	ENSP00000495289.1:n.*262A>G
ENST00000646544.1:c.649A>G
ENST00000646699.1:c.1600A>G
ENST00000646793.1:c.1553A>G	ENSP00000494512.1:p.Lys518Arg
ENST00000361150.6:c.1664A>G	ENSP00000354781.2:p.Lys555Arg
ENST00000361510.6:c.1826A>G	ENSP00000355324.2:p.Lys609Arg
ENST00000361715.6:c.1718A>G	ENSP00000355311.2:p.Lys573Arg
ENST00000361828.6:c.1715A>G	ENSP00000354429.2:p.Lys572Arg
ENST00000361908.7:c.1772A>G	ENSP00000354681.3:p.Lys591Arg
ENST00000392438.7:c.1661A>G	ENSP00000376233.3:p.Lys554Arg
ENST00000483516.1:n.159A>G
NM_015560.2:c.1661A>G , LRG_337t1:c.1661A>G	NP_056375.2:p.Lys554Arg
NM_130831.2:c.1553A>G	NP_570844.1:p.Lys518Arg
NM_130832.2:c.1607A>G	NP_570845.1:p.Lys536Arg
NM_130833.2:c.1664A>G	NP_570846.1:p.Lys555Arg
NM_130834.2:c.1715A>G	NP_570847.2:p.Lys572Arg
NM_130835.2:c.1718A>G	NP_570848.1:p.Lys573Arg
NM_130836.2:c.1772A>G	NP_570849.2:p.Lys591Arg
NM_130837.2:c.1826A>G , LRG_337t2:c.1826A>G	NP_570850.2:p.Lys609Arg
XM_011512863.1:c.1826A>G	XP_011511165.1:p.Lys609Arg
XM_011512864.1:c.1772A>G	XP_011511166.1:p.Lys591Arg
XM_011512865.1:c.1715A>G	XP_011511167.1:p.Lys572Arg
XM_011512866.1:c.1664A>G	XP_011511168.1:p.Lys555Arg
XM_011512867.1:c.1661A>G	XP_011511169.1:p.Lys554Arg
XM_011512868.1:c.1553A>G	XP_011511170.1:p.Lys518Arg
XM_011512869.1:c.1826A>G	XP_011511171.1:p.Lys609Arg
NM_001354663.1:c.1292A>G	NP_001341592.1:p.Lys431Arg
NM_001354664.1:c.1289A>G	NP_001341593.1:p.Lys430Arg
XR_001740158.2:n.2055A>G
XR_001740159.2:n.1890A>G
NM_001354663.2:c.1292A>G	NP_001341592.1:p.Lys431Arg
NM_001354664.2:c.1289A>G	NP_001341593.1:p.Lys430Arg
NM_130831.3:c.1553A>G	NP_570844.1:p.Lys518Arg
NM_130832.3:c.1607A>G	NP_570845.1:p.Lys536Arg
NM_130834.3:c.1715A>G	NP_570847.2:p.Lys572Arg
NM_130836.3:c.1772A>G	NP_570849.2:p.Lys591Arg
NM_015560.3:c.1661A>G	NP_056375.2:p.Lys554Arg
NM_130833.3:c.1664A>G	NP_570846.1:p.Lys555Arg
NM_130835.3:c.1718A>G	NP_570848.1:p.Lys573Arg
NM_130837.3:c.1826A>G MANE Select	NP_570850.2:p.Lys609Arg