Canonical Allele Identifier: CA355790556

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364949A>T (hg19) ; chr3:g.193647160A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647160A>T , CM000665.2:g.193647160A>T	GRCh38
NC_000003.11:g.193364949A>T , CM000665.1:g.193364949A>T	GRCh37
NC_000003.10:g.194847643A>T	NCBI36
NG_011605.1:g.59017A>T , LRG_337:g.59017A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1850A>T MANE Select	ENSP00000355324.2:p.Gln617Leu
ENST00000361828.7:c.1685A>T	ENSP00000354429.3:p.Gln562Leu
ENST00000361908.8:c.1796A>T	ENSP00000354681.3:p.Gln599Leu
ENST00000392436.7:c.1685A>T	ENSP00000376231.3:p.Gln562Leu
ENST00000392437.6:c.1739A>T	ENSP00000376232.2:p.Gln580Leu
ENST00000642289.1:c.1624A>T
ENST00000642445.1:c.1685A>T	ENSP00000495535.1:p.Gln562Leu
ENST00000642593.1:c.1685A>T	ENSP00000494273.1:p.Gln562Leu
ENST00000643329.1:c.1367A>T	ENSP00000493673.1:p.Gln456Leu
ENST00000643737.1:c.*1766A>T	ENSP00000494210.1:n.*1766A>T
ENST00000644595.1:c.1685A>T	ENSP00000494121.1:p.Gln562Leu
ENST00000644629.1:c.1272A>T
ENST00000644841.1:c.*169A>T	ENSP00000493988.1:n.*169A>T
ENST00000644959.1:c.1654A>T
ENST00000645553.1:c.1700A>T	ENSP00000494725.1:p.Gln567Leu
ENST00000646085.1:c.*1163A>T	ENSP00000494509.1:n.*1163A>T
ENST00000646277.1:c.*286A>T	ENSP00000495289.1:n.*286A>T
ENST00000646544.1:c.673A>T
ENST00000646699.1:c.1624A>T
ENST00000646793.1:c.1577A>T	ENSP00000494512.1:p.Gln526Leu
ENST00000361150.6:c.1688A>T	ENSP00000354781.2:p.Gln563Leu
ENST00000361510.6:c.1850A>T	ENSP00000355324.2:p.Gln617Leu
ENST00000361715.6:c.1742A>T	ENSP00000355311.2:p.Gln581Leu
ENST00000361828.6:c.1739A>T	ENSP00000354429.2:p.Gln580Leu
ENST00000361908.7:c.1796A>T	ENSP00000354681.3:p.Gln599Leu
ENST00000392438.7:c.1685A>T	ENSP00000376233.3:p.Gln562Leu
ENST00000483516.1:n.183A>T
NM_015560.2:c.1685A>T , LRG_337t1:c.1685A>T	NP_056375.2:p.Gln562Leu
NM_130831.2:c.1577A>T	NP_570844.1:p.Gln526Leu
NM_130832.2:c.1631A>T	NP_570845.1:p.Gln544Leu
NM_130833.2:c.1688A>T	NP_570846.1:p.Gln563Leu
NM_130834.2:c.1739A>T	NP_570847.2:p.Gln580Leu
NM_130835.2:c.1742A>T	NP_570848.1:p.Gln581Leu
NM_130836.2:c.1796A>T	NP_570849.2:p.Gln599Leu
NM_130837.2:c.1850A>T , LRG_337t2:c.1850A>T	NP_570850.2:p.Gln617Leu
XM_011512863.1:c.1850A>T	XP_011511165.1:p.Gln617Leu
XM_011512864.1:c.1796A>T	XP_011511166.1:p.Gln599Leu
XM_011512865.1:c.1739A>T	XP_011511167.1:p.Gln580Leu
XM_011512866.1:c.1688A>T	XP_011511168.1:p.Gln563Leu
XM_011512867.1:c.1685A>T	XP_011511169.1:p.Gln562Leu
XM_011512868.1:c.1577A>T	XP_011511170.1:p.Gln526Leu
XM_011512869.1:c.1850A>T	XP_011511171.1:p.Gln617Leu
NM_001354663.1:c.1316A>T	NP_001341592.1:p.Gln439Leu
NM_001354664.1:c.1313A>T	NP_001341593.1:p.Gln438Leu
XR_001740158.2:n.2079A>T
XR_001740159.2:n.1914A>T
NM_001354663.2:c.1316A>T	NP_001341592.1:p.Gln439Leu
NM_001354664.2:c.1313A>T	NP_001341593.1:p.Gln438Leu
NM_130831.3:c.1577A>T	NP_570844.1:p.Gln526Leu
NM_130832.3:c.1631A>T	NP_570845.1:p.Gln544Leu
NM_130834.3:c.1739A>T	NP_570847.2:p.Gln580Leu
NM_130836.3:c.1796A>T	NP_570849.2:p.Gln599Leu
NM_015560.3:c.1685A>T	NP_056375.2:p.Gln562Leu
NM_130833.3:c.1688A>T	NP_570846.1:p.Gln563Leu
NM_130835.3:c.1742A>T	NP_570848.1:p.Gln581Leu
NM_130837.3:c.1850A>T MANE Select	NP_570850.2:p.Gln617Leu