Canonical Allele Identifier: CA355790369

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364865T>A (hg19) ; chr3:g.193647076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647076T>A , CM000665.2:g.193647076T>A	GRCh38
NC_000003.11:g.193364865T>A , CM000665.1:g.193364865T>A	GRCh37
NC_000003.10:g.194847559T>A	NCBI36
NG_011605.1:g.58933T>A , LRG_337:g.58933T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1766T>A MANE Select	ENSP00000355324.2:p.Leu589Gln
ENST00000361828.7:c.1601T>A	ENSP00000354429.3:p.Leu534Gln
ENST00000361908.8:c.1712T>A	ENSP00000354681.3:p.Leu571Gln
ENST00000392436.7:c.1601T>A	ENSP00000376231.3:p.Leu534Gln
ENST00000392437.6:c.1655T>A	ENSP00000376232.2:p.Leu552Gln
ENST00000642289.1:c.1540T>A
ENST00000642445.1:c.1601T>A	ENSP00000495535.1:p.Leu534Gln
ENST00000642593.1:c.1601T>A	ENSP00000494273.1:p.Leu534Gln
ENST00000643329.1:c.1283T>A	ENSP00000493673.1:p.Leu428Gln
ENST00000643737.1:c.*1682T>A	ENSP00000494210.1:n.*1682T>A
ENST00000644595.1:c.1601T>A	ENSP00000494121.1:p.Leu534Gln
ENST00000644629.1:c.1188T>A
ENST00000644841.1:c.*85T>A	ENSP00000493988.1:n.*85T>A
ENST00000644959.1:c.1570T>A
ENST00000645553.1:c.1616T>A	ENSP00000494725.1:p.Leu539Gln
ENST00000646085.1:c.*1079T>A	ENSP00000494509.1:n.*1079T>A
ENST00000646277.1:c.*202T>A	ENSP00000495289.1:n.*202T>A
ENST00000646544.1:c.589T>A
ENST00000646699.1:c.1540T>A
ENST00000646793.1:c.1493T>A	ENSP00000494512.1:p.Leu498Gln
ENST00000361150.6:c.1604T>A	ENSP00000354781.2:p.Leu535Gln
ENST00000361510.6:c.1766T>A	ENSP00000355324.2:p.Leu589Gln
ENST00000361715.6:c.1658T>A	ENSP00000355311.2:p.Leu553Gln
ENST00000361828.6:c.1655T>A	ENSP00000354429.2:p.Leu552Gln
ENST00000361908.7:c.1712T>A	ENSP00000354681.3:p.Leu571Gln
ENST00000392438.7:c.1601T>A	ENSP00000376233.3:p.Leu534Gln
ENST00000483516.1:n.99T>A
NM_015560.2:c.1601T>A , LRG_337t1:c.1601T>A	NP_056375.2:p.Leu534Gln
NM_130831.2:c.1493T>A	NP_570844.1:p.Leu498Gln
NM_130832.2:c.1547T>A	NP_570845.1:p.Leu516Gln
NM_130833.2:c.1604T>A	NP_570846.1:p.Leu535Gln
NM_130834.2:c.1655T>A	NP_570847.2:p.Leu552Gln
NM_130835.2:c.1658T>A	NP_570848.1:p.Leu553Gln
NM_130836.2:c.1712T>A	NP_570849.2:p.Leu571Gln
NM_130837.2:c.1766T>A , LRG_337t2:c.1766T>A	NP_570850.2:p.Leu589Gln
XM_011512863.1:c.1766T>A	XP_011511165.1:p.Leu589Gln
XM_011512864.1:c.1712T>A	XP_011511166.1:p.Leu571Gln
XM_011512865.1:c.1655T>A	XP_011511167.1:p.Leu552Gln
XM_011512866.1:c.1604T>A	XP_011511168.1:p.Leu535Gln
XM_011512867.1:c.1601T>A	XP_011511169.1:p.Leu534Gln
XM_011512868.1:c.1493T>A	XP_011511170.1:p.Leu498Gln
XM_011512869.1:c.1766T>A	XP_011511171.1:p.Leu589Gln
NM_001354663.1:c.1232T>A	NP_001341592.1:p.Leu411Gln
NM_001354664.1:c.1229T>A	NP_001341593.1:p.Leu410Gln
XR_001740158.2:n.1995T>A
XR_001740159.2:n.1830T>A
NM_001354663.2:c.1232T>A	NP_001341592.1:p.Leu411Gln
NM_001354664.2:c.1229T>A	NP_001341593.1:p.Leu410Gln
NM_130831.3:c.1493T>A	NP_570844.1:p.Leu498Gln
NM_130832.3:c.1547T>A	NP_570845.1:p.Leu516Gln
NM_130834.3:c.1655T>A	NP_570847.2:p.Leu552Gln
NM_130836.3:c.1712T>A	NP_570849.2:p.Leu571Gln
NM_015560.3:c.1601T>A	NP_056375.2:p.Leu534Gln
NM_130833.3:c.1604T>A	NP_570846.1:p.Leu535Gln
NM_130835.3:c.1658T>A	NP_570848.1:p.Leu553Gln
NM_130837.3:c.1766T>A MANE Select	NP_570850.2:p.Leu589Gln