Canonical Allele Identifier: CA355792877

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193377307G>T (hg19) ; chr3:g.193659518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659518G>T , CM000665.2:g.193659518G>T	GRCh38
NC_000003.11:g.193377307G>T , CM000665.1:g.193377307G>T	GRCh37
NC_000003.10:g.194860001G>T	NCBI36
NG_011605.1:g.71375G>T , LRG_337:g.71375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2477G>T MANE Select	ENSP00000355324.2:p.Trp826Leu
ENST00000361828.7:c.2312G>T	ENSP00000354429.3:p.Trp771Leu
ENST00000361908.8:c.2423G>T	ENSP00000354681.3:p.Trp808Leu
ENST00000392436.7:c.2312G>T	ENSP00000376231.3:p.Trp771Leu
ENST00000392437.6:c.2366G>T	ENSP00000376232.2:p.Trp789Leu
ENST00000642289.1:c.2251G>T
ENST00000642445.1:c.2312G>T	ENSP00000495535.1:p.Trp771Leu
ENST00000642593.1:c.*537G>T	ENSP00000494273.1:n.*537G>T
ENST00000643329.1:c.1994G>T	ENSP00000493673.1:p.Trp665Leu
ENST00000643737.1:c.*2393G>T	ENSP00000494210.1:n.*2393G>T
ENST00000644595.1:c.2312G>T	ENSP00000494121.1:p.Trp771Leu
ENST00000644629.1:c.1899G>T
ENST00000644841.1:c.*796G>T	ENSP00000493988.1:n.*796G>T
ENST00000644959.1:c.2306G>T
ENST00000645553.1:c.2327G>T	ENSP00000494725.1:p.Trp776Leu
ENST00000646085.1:c.*1790G>T	ENSP00000494509.1:n.*1790G>T
ENST00000646277.1:c.*913G>T	ENSP00000495289.1:n.*913G>T
ENST00000646544.1:c.1300G>T
ENST00000646699.1:c.2251G>T
ENST00000646793.1:c.2204G>T	ENSP00000494512.1:p.Trp735Leu
ENST00000361150.6:c.2315G>T	ENSP00000354781.2:p.Trp772Leu
ENST00000361510.6:c.2477G>T	ENSP00000355324.2:p.Trp826Leu
ENST00000361715.6:c.2369G>T	ENSP00000355311.2:p.Trp790Leu
ENST00000361828.6:c.2366G>T	ENSP00000354429.2:p.Trp789Leu
ENST00000361908.7:c.2423G>T	ENSP00000354681.3:p.Trp808Leu
ENST00000392438.7:c.2312G>T	ENSP00000376233.3:p.Trp771Leu
NM_015560.2:c.2312G>T , LRG_337t1:c.2312G>T	NP_056375.2:p.Trp771Leu
NM_130831.2:c.2204G>T	NP_570844.1:p.Trp735Leu
NM_130832.2:c.2258G>T	NP_570845.1:p.Trp753Leu
NM_130833.2:c.2315G>T	NP_570846.1:p.Trp772Leu
NM_130834.2:c.2366G>T	NP_570847.2:p.Trp789Leu
NM_130835.2:c.2369G>T	NP_570848.1:p.Trp790Leu
NM_130836.2:c.2423G>T	NP_570849.2:p.Trp808Leu
NM_130837.2:c.2477G>T , LRG_337t2:c.2477G>T	NP_570850.2:p.Trp826Leu
XM_011512863.1:c.2477G>T	XP_011511165.1:p.Trp826Leu
XM_011512864.1:c.2423G>T	XP_011511166.1:p.Trp808Leu
XM_011512865.1:c.2366G>T	XP_011511167.1:p.Trp789Leu
XM_011512866.1:c.2315G>T	XP_011511168.1:p.Trp772Leu
XM_011512867.1:c.2312G>T	XP_011511169.1:p.Trp771Leu
XM_011512868.1:c.2204G>T	XP_011511170.1:p.Trp735Leu
XR_924835.1:n.582+9402C>A
NM_001354663.1:c.1943G>T	NP_001341592.1:p.Trp648Leu
NM_001354664.1:c.1940G>T	NP_001341593.1:p.Trp647Leu
XR_001740158.2:n.2731G>T
XR_001740159.2:n.2566G>T
XR_001741074.1:n.475+11290C>A
XR_924835.2:n.600+9402C>A
NM_001354663.2:c.1943G>T	NP_001341592.1:p.Trp648Leu
NM_001354664.2:c.1940G>T	NP_001341593.1:p.Trp647Leu
NM_130831.3:c.2204G>T	NP_570844.1:p.Trp735Leu
NM_130832.3:c.2258G>T	NP_570845.1:p.Trp753Leu
NM_130834.3:c.2366G>T	NP_570847.2:p.Trp789Leu
NM_130836.3:c.2423G>T	NP_570849.2:p.Trp808Leu
NM_015560.3:c.2312G>T	NP_056375.2:p.Trp771Leu
NM_130833.3:c.2315G>T	NP_570846.1:p.Trp772Leu
NM_130835.3:c.2369G>T	NP_570848.1:p.Trp790Leu
NM_130837.3:c.2477G>T MANE Select	NP_570850.2:p.Trp826Leu