Canonical Allele Identifier: CA355792820

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193377282A>T (hg19) ; chr3:g.193659493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659493A>T , CM000665.2:g.193659493A>T	GRCh38
NC_000003.11:g.193377282A>T , CM000665.1:g.193377282A>T	GRCh37
NC_000003.10:g.194859976A>T	NCBI36
NG_011605.1:g.71350A>T , LRG_337:g.71350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2452A>T MANE Select	ENSP00000355324.2:p.Ile818Phe
ENST00000361828.7:c.2287A>T	ENSP00000354429.3:p.Ile763Phe
ENST00000361908.8:c.2398A>T	ENSP00000354681.3:p.Ile800Phe
ENST00000392436.7:c.2287A>T	ENSP00000376231.3:p.Ile763Phe
ENST00000392437.6:c.2341A>T	ENSP00000376232.2:p.Ile781Phe
ENST00000642289.1:c.2226A>T
ENST00000642445.1:c.2287A>T	ENSP00000495535.1:p.Ile763Phe
ENST00000642593.1:c.*512A>T	ENSP00000494273.1:n.*512A>T
ENST00000643329.1:c.1969A>T	ENSP00000493673.1:p.Ile657Phe
ENST00000643737.1:c.*2368A>T	ENSP00000494210.1:n.*2368A>T
ENST00000644595.1:c.2287A>T	ENSP00000494121.1:p.Ile763Phe
ENST00000644629.1:c.1874A>T
ENST00000644841.1:c.*771A>T	ENSP00000493988.1:n.*771A>T
ENST00000644959.1:c.2281A>T
ENST00000645553.1:c.2302A>T	ENSP00000494725.1:p.Ile768Phe
ENST00000646085.1:c.*1765A>T	ENSP00000494509.1:n.*1765A>T
ENST00000646277.1:c.*888A>T	ENSP00000495289.1:n.*888A>T
ENST00000646544.1:c.1275A>T
ENST00000646699.1:c.2226A>T
ENST00000646793.1:c.2179A>T	ENSP00000494512.1:p.Ile727Phe
ENST00000361150.6:c.2290A>T	ENSP00000354781.2:p.Ile764Phe
ENST00000361510.6:c.2452A>T	ENSP00000355324.2:p.Ile818Phe
ENST00000361715.6:c.2344A>T	ENSP00000355311.2:p.Ile782Phe
ENST00000361828.6:c.2341A>T	ENSP00000354429.2:p.Ile781Phe
ENST00000361908.7:c.2398A>T	ENSP00000354681.3:p.Ile800Phe
ENST00000392438.7:c.2287A>T	ENSP00000376233.3:p.Ile763Phe
ENST00000482865.1:n.546A>T
NM_015560.2:c.2287A>T , LRG_337t1:c.2287A>T	NP_056375.2:p.Ile763Phe
NM_130831.2:c.2179A>T	NP_570844.1:p.Ile727Phe
NM_130832.2:c.2233A>T	NP_570845.1:p.Ile745Phe
NM_130833.2:c.2290A>T	NP_570846.1:p.Ile764Phe
NM_130834.2:c.2341A>T	NP_570847.2:p.Ile781Phe
NM_130835.2:c.2344A>T	NP_570848.1:p.Ile782Phe
NM_130836.2:c.2398A>T	NP_570849.2:p.Ile800Phe
NM_130837.2:c.2452A>T , LRG_337t2:c.2452A>T	NP_570850.2:p.Ile818Phe
XM_011512863.1:c.2452A>T	XP_011511165.1:p.Ile818Phe
XM_011512864.1:c.2398A>T	XP_011511166.1:p.Ile800Phe
XM_011512865.1:c.2341A>T	XP_011511167.1:p.Ile781Phe
XM_011512866.1:c.2290A>T	XP_011511168.1:p.Ile764Phe
XM_011512867.1:c.2287A>T	XP_011511169.1:p.Ile763Phe
XM_011512868.1:c.2179A>T	XP_011511170.1:p.Ile727Phe
XR_924835.1:n.582+9427T>A
NM_001354663.1:c.1918A>T	NP_001341592.1:p.Ile640Phe
NM_001354664.1:c.1915A>T	NP_001341593.1:p.Ile639Phe
XR_001740158.2:n.2706A>T
XR_001740159.2:n.2541A>T
XR_001741074.1:n.475+11315T>A
XR_924835.2:n.600+9427T>A
NM_001354663.2:c.1918A>T	NP_001341592.1:p.Ile640Phe
NM_001354664.2:c.1915A>T	NP_001341593.1:p.Ile639Phe
NM_130831.3:c.2179A>T	NP_570844.1:p.Ile727Phe
NM_130832.3:c.2233A>T	NP_570845.1:p.Ile745Phe
NM_130834.3:c.2341A>T	NP_570847.2:p.Ile781Phe
NM_130836.3:c.2398A>T	NP_570849.2:p.Ile800Phe
NM_015560.3:c.2287A>T	NP_056375.2:p.Ile763Phe
NM_130833.3:c.2290A>T	NP_570846.1:p.Ile764Phe
NM_130835.3:c.2344A>T	NP_570848.1:p.Ile782Phe
NM_130837.3:c.2452A>T MANE Select	NP_570850.2:p.Ile818Phe