Canonical Allele Identifier: CA355789781

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193361809G>A (hg19) ; chr3:g.193644020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193644020G>A , CM000665.2:g.193644020G>A	GRCh38
NC_000003.11:g.193361809G>A , CM000665.1:g.193361809G>A	GRCh37
NC_000003.10:g.194844503G>A	NCBI36
NG_011605.1:g.55877G>A , LRG_337:g.55877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1523G>A MANE Select	ENSP00000355324.2:p.Ser508Asn
ENST00000361828.7:c.1358G>A	ENSP00000354429.3:p.Ser453Asn
ENST00000361908.8:c.1469G>A	ENSP00000354681.3:p.Ser490Asn
ENST00000392436.7:c.1358G>A	ENSP00000376231.3:p.Ser453Asn
ENST00000392437.6:c.1412G>A	ENSP00000376232.2:p.Ser471Asn
ENST00000642289.1:c.1297G>A
ENST00000642445.1:c.1358G>A	ENSP00000495535.1:p.Ser453Asn
ENST00000642593.1:c.1358G>A	ENSP00000494273.1:p.Ser453Asn
ENST00000643329.1:c.1040G>A	ENSP00000493673.1:p.Ser347Asn
ENST00000643737.1:c.*1439G>A	ENSP00000494210.1:n.*1439G>A
ENST00000644595.1:c.1358G>A	ENSP00000494121.1:p.Ser453Asn
ENST00000644629.1:c.1018G>A
ENST00000644841.1:c.986G>A	ENSP00000493988.1:p.Ser329Asn
ENST00000644959.1:c.1327G>A
ENST00000645553.1:c.1373G>A	ENSP00000494725.1:p.Ser458Asn
ENST00000646085.1:c.*836G>A	ENSP00000494509.1:n.*836G>A
ENST00000646277.1:c.1546G>A	ENSP00000495289.1:p.Val516Ile
ENST00000646544.1:c.346G>A
ENST00000646699.1:c.1297G>A
ENST00000646793.1:c.1250G>A	ENSP00000494512.1:p.Ser417Asn
ENST00000361150.6:c.1361G>A	ENSP00000354781.2:p.Ser454Asn
ENST00000361510.6:c.1523G>A	ENSP00000355324.2:p.Ser508Asn
ENST00000361715.6:c.1415G>A	ENSP00000355311.2:p.Ser472Asn
ENST00000361828.6:c.1412G>A	ENSP00000354429.2:p.Ser471Asn
ENST00000361908.7:c.1469G>A	ENSP00000354681.3:p.Ser490Asn
ENST00000392438.7:c.1358G>A	ENSP00000376233.3:p.Ser453Asn
ENST00000475899.1:n.554G>A
NM_015560.2:c.1358G>A , LRG_337t1:c.1358G>A	NP_056375.2:p.Ser453Asn
NM_130831.2:c.1250G>A	NP_570844.1:p.Ser417Asn
NM_130832.2:c.1304G>A	NP_570845.1:p.Ser435Asn
NM_130833.2:c.1361G>A	NP_570846.1:p.Ser454Asn
NM_130834.2:c.1412G>A	NP_570847.2:p.Ser471Asn
NM_130835.2:c.1415G>A	NP_570848.1:p.Ser472Asn
NM_130836.2:c.1469G>A	NP_570849.2:p.Ser490Asn
NM_130837.2:c.1523G>A , LRG_337t2:c.1523G>A	NP_570850.2:p.Ser508Asn
XM_011512863.1:c.1523G>A	XP_011511165.1:p.Ser508Asn
XM_011512864.1:c.1469G>A	XP_011511166.1:p.Ser490Asn
XM_011512865.1:c.1412G>A	XP_011511167.1:p.Ser471Asn
XM_011512866.1:c.1361G>A	XP_011511168.1:p.Ser454Asn
XM_011512867.1:c.1358G>A	XP_011511169.1:p.Ser453Asn
XM_011512868.1:c.1250G>A	XP_011511170.1:p.Ser417Asn
XM_011512869.1:c.1523G>A	XP_011511171.1:p.Ser508Asn
NM_001354663.1:c.989G>A	NP_001341592.1:p.Ser330Asn
NM_001354664.1:c.986G>A	NP_001341593.1:p.Ser329Asn
XR_001740158.2:n.1752G>A
XR_001740159.2:n.1587G>A
NM_001354663.2:c.989G>A	NP_001341592.1:p.Ser330Asn
NM_001354664.2:c.986G>A	NP_001341593.1:p.Ser329Asn
NM_130831.3:c.1250G>A	NP_570844.1:p.Ser417Asn
NM_130832.3:c.1304G>A	NP_570845.1:p.Ser435Asn
NM_130834.3:c.1412G>A	NP_570847.2:p.Ser471Asn
NM_130836.3:c.1469G>A	NP_570849.2:p.Ser490Asn
NM_015560.3:c.1358G>A	NP_056375.2:p.Ser453Asn
NM_130833.3:c.1361G>A	NP_570846.1:p.Ser454Asn
NM_130835.3:c.1415G>A	NP_570848.1:p.Ser472Asn
NM_130837.3:c.1523G>A MANE Select	NP_570850.2:p.Ser508Asn