Canonical Allele Identifier: CA355790429

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364893T>G (hg19) ; chr3:g.193647104T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647104T>G , CM000665.2:g.193647104T>G	GRCh38
NC_000003.11:g.193364893T>G , CM000665.1:g.193364893T>G	GRCh37
NC_000003.10:g.194847587T>G	NCBI36
NG_011605.1:g.58961T>G , LRG_337:g.58961T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1794T>G MANE Select	ENSP00000355324.2:p.Asn598Lys
ENST00000361828.7:c.1629T>G	ENSP00000354429.3:p.Asn543Lys
ENST00000361908.8:c.1740T>G	ENSP00000354681.3:p.Asn580Lys
ENST00000392436.7:c.1629T>G	ENSP00000376231.3:p.Asn543Lys
ENST00000392437.6:c.1683T>G	ENSP00000376232.2:p.Asn561Lys
ENST00000642289.1:c.1568T>G
ENST00000642445.1:c.1629T>G	ENSP00000495535.1:p.Asn543Lys
ENST00000642593.1:c.1629T>G	ENSP00000494273.1:p.Asn543Lys
ENST00000643329.1:c.1311T>G	ENSP00000493673.1:p.Asn437Lys
ENST00000643737.1:c.*1710T>G	ENSP00000494210.1:n.*1710T>G
ENST00000644595.1:c.1629T>G	ENSP00000494121.1:p.Asn543Lys
ENST00000644629.1:c.1216T>G
ENST00000644841.1:c.*113T>G	ENSP00000493988.1:n.*113T>G
ENST00000644959.1:c.1598T>G
ENST00000645553.1:c.1644T>G	ENSP00000494725.1:p.Asn548Lys
ENST00000646085.1:c.*1107T>G	ENSP00000494509.1:n.*1107T>G
ENST00000646277.1:c.*230T>G	ENSP00000495289.1:n.*230T>G
ENST00000646544.1:c.617T>G
ENST00000646699.1:c.1568T>G
ENST00000646793.1:c.1521T>G	ENSP00000494512.1:p.Asn507Lys
ENST00000361150.6:c.1632T>G	ENSP00000354781.2:p.Asn544Lys
ENST00000361510.6:c.1794T>G	ENSP00000355324.2:p.Asn598Lys
ENST00000361715.6:c.1686T>G	ENSP00000355311.2:p.Asn562Lys
ENST00000361828.6:c.1683T>G	ENSP00000354429.2:p.Asn561Lys
ENST00000361908.7:c.1740T>G	ENSP00000354681.3:p.Asn580Lys
ENST00000392438.7:c.1629T>G	ENSP00000376233.3:p.Asn543Lys
ENST00000483516.1:n.127T>G
NM_015560.2:c.1629T>G , LRG_337t1:c.1629T>G	NP_056375.2:p.Asn543Lys
NM_130831.2:c.1521T>G	NP_570844.1:p.Asn507Lys
NM_130832.2:c.1575T>G	NP_570845.1:p.Asn525Lys
NM_130833.2:c.1632T>G	NP_570846.1:p.Asn544Lys
NM_130834.2:c.1683T>G	NP_570847.2:p.Asn561Lys
NM_130835.2:c.1686T>G	NP_570848.1:p.Asn562Lys
NM_130836.2:c.1740T>G	NP_570849.2:p.Asn580Lys
NM_130837.2:c.1794T>G , LRG_337t2:c.1794T>G	NP_570850.2:p.Asn598Lys
XM_011512863.1:c.1794T>G	XP_011511165.1:p.Asn598Lys
XM_011512864.1:c.1740T>G	XP_011511166.1:p.Asn580Lys
XM_011512865.1:c.1683T>G	XP_011511167.1:p.Asn561Lys
XM_011512866.1:c.1632T>G	XP_011511168.1:p.Asn544Lys
XM_011512867.1:c.1629T>G	XP_011511169.1:p.Asn543Lys
XM_011512868.1:c.1521T>G	XP_011511170.1:p.Asn507Lys
XM_011512869.1:c.1794T>G	XP_011511171.1:p.Asn598Lys
NM_001354663.1:c.1260T>G	NP_001341592.1:p.Asn420Lys
NM_001354664.1:c.1257T>G	NP_001341593.1:p.Asn419Lys
XR_001740158.2:n.2023T>G
XR_001740159.2:n.1858T>G
NM_001354663.2:c.1260T>G	NP_001341592.1:p.Asn420Lys
NM_001354664.2:c.1257T>G	NP_001341593.1:p.Asn419Lys
NM_130831.3:c.1521T>G	NP_570844.1:p.Asn507Lys
NM_130832.3:c.1575T>G	NP_570845.1:p.Asn525Lys
NM_130834.3:c.1683T>G	NP_570847.2:p.Asn561Lys
NM_130836.3:c.1740T>G	NP_570849.2:p.Asn580Lys
NM_015560.3:c.1629T>G	NP_056375.2:p.Asn543Lys
NM_130833.3:c.1632T>G	NP_570846.1:p.Asn544Lys
NM_130835.3:c.1686T>G	NP_570848.1:p.Asn562Lys
NM_130837.3:c.1794T>G MANE Select	NP_570850.2:p.Asn598Lys