Canonical Allele Identifier: CA437437553

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364953G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647164G>A , CM000665.2:g.193647164G>A	GRCh38
NC_000003.11:g.193364953G>A , CM000665.1:g.193364953G>A	GRCh37
NC_000003.10:g.194847647G>A	NCBI36
NG_011605.1:g.59021G>A , LRG_337:g.59021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1854G>A MANE Select	ENSP00000355324.2:p.Gln618=
ENST00000361828.7:c.1689G>A	ENSP00000354429.3:p.Gln563=
ENST00000361908.8:c.1800G>A	ENSP00000354681.3:p.Gln600=
ENST00000392436.7:c.1689G>A	ENSP00000376231.3:p.Gln563=
ENST00000392437.6:c.1743G>A	ENSP00000376232.2:p.Gln581=
ENST00000642289.1:c.1628G>A
ENST00000642445.1:c.1689G>A	ENSP00000495535.1:p.Gln563=
ENST00000642593.1:c.1689G>A	ENSP00000494273.1:p.Gln563=
ENST00000643329.1:c.1371G>A	ENSP00000493673.1:p.Gln457=
ENST00000643737.1:c.*1770G>A	ENSP00000494210.1:n.*1770G>A
ENST00000644595.1:c.1689G>A	ENSP00000494121.1:p.Gln563=
ENST00000644629.1:c.1276G>A
ENST00000644841.1:c.*173G>A	ENSP00000493988.1:n.*173G>A
ENST00000644959.1:c.1658G>A
ENST00000645553.1:c.1704G>A	ENSP00000494725.1:p.Gln568=
ENST00000646085.1:c.*1167G>A	ENSP00000494509.1:n.*1167G>A
ENST00000646277.1:c.*290G>A	ENSP00000495289.1:n.*290G>A
ENST00000646544.1:c.677G>A
ENST00000646699.1:c.1628G>A
ENST00000646793.1:c.1581G>A	ENSP00000494512.1:p.Gln527=
ENST00000361150.6:c.1692G>A	ENSP00000354781.2:p.Gln564=
ENST00000361510.6:c.1854G>A	ENSP00000355324.2:p.Gln618=
ENST00000361715.6:c.1746G>A	ENSP00000355311.2:p.Gln582=
ENST00000361828.6:c.1743G>A	ENSP00000354429.2:p.Gln581=
ENST00000361908.7:c.1800G>A	ENSP00000354681.3:p.Gln600=
ENST00000392438.7:c.1689G>A	ENSP00000376233.3:p.Gln563=
ENST00000483516.1:n.187G>A
NM_015560.2:c.1689G>A , LRG_337t1:c.1689G>A	NP_056375.2:p.Gln563=
NM_130831.2:c.1581G>A	NP_570844.1:p.Gln527=
NM_130832.2:c.1635G>A	NP_570845.1:p.Gln545=
NM_130833.2:c.1692G>A	NP_570846.1:p.Gln564=
NM_130834.2:c.1743G>A	NP_570847.2:p.Gln581=
NM_130835.2:c.1746G>A	NP_570848.1:p.Gln582=
NM_130836.2:c.1800G>A	NP_570849.2:p.Gln600=
NM_130837.2:c.1854G>A , LRG_337t2:c.1854G>A	NP_570850.2:p.Gln618=
XM_011512863.1:c.1854G>A	XP_011511165.1:p.Gln618=
XM_011512864.1:c.1800G>A	XP_011511166.1:p.Gln600=
XM_011512865.1:c.1743G>A	XP_011511167.1:p.Gln581=
XM_011512866.1:c.1692G>A	XP_011511168.1:p.Gln564=
XM_011512867.1:c.1689G>A	XP_011511169.1:p.Gln563=
XM_011512868.1:c.1581G>A	XP_011511170.1:p.Gln527=
XM_011512869.1:c.1854G>A	XP_011511171.1:p.Gln618=
NM_001354663.1:c.1320G>A	NP_001341592.1:p.Gln440=
NM_001354664.1:c.1317G>A	NP_001341593.1:p.Gln439=
XR_001740158.2:n.2083G>A
XR_001740159.2:n.1918G>A
NM_001354663.2:c.1320G>A	NP_001341592.1:p.Gln440=
NM_001354664.2:c.1317G>A	NP_001341593.1:p.Gln439=
NM_130831.3:c.1581G>A	NP_570844.1:p.Gln527=
NM_130832.3:c.1635G>A	NP_570845.1:p.Gln545=
NM_130834.3:c.1743G>A	NP_570847.2:p.Gln581=
NM_130836.3:c.1800G>A	NP_570849.2:p.Gln600=
NM_015560.3:c.1689G>A	NP_056375.2:p.Gln563=
NM_130833.3:c.1692G>A	NP_570846.1:p.Gln564=
NM_130835.3:c.1746G>A	NP_570848.1:p.Gln582=
NM_130837.3:c.1854G>A MANE Select	NP_570850.2:p.Gln618=