Canonical Allele Identifier: CA355797551

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2842654
• ClinVar RCV Id: RCV003723568
• MyVariant Identifiers: chr3:g.193385021A>T (hg19) ; chr3:g.193667232A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667232A>T , CM000665.2:g.193667232A>T	GRCh38
NC_000003.11:g.193385021A>T , CM000665.1:g.193385021A>T	GRCh37
NC_000003.10:g.194867715A>T	NCBI36
NG_011605.1:g.79089A>T , LRG_337:g.79089A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2935A>T MANE Select	ENSP00000355324.2:p.Lys979Ter
ENST00000361828.7:c.2770A>T	ENSP00000354429.3:p.Lys924Ter
ENST00000361908.8:c.2881A>T	ENSP00000354681.3:p.Lys961Ter
ENST00000392436.7:c.2770A>T	ENSP00000376231.3:p.Lys924Ter
ENST00000392437.6:c.2824A>T	ENSP00000376232.2:p.Lys942Ter
ENST00000642289.1:c.2709A>T
ENST00000642445.1:c.2770A>T	ENSP00000495535.1:p.Lys924Ter
ENST00000642593.1:c.*995A>T	ENSP00000494273.1:n.*995A>T
ENST00000643329.1:c.2452A>T	ENSP00000493673.1:p.Lys818Ter
ENST00000643737.1:c.*2851A>T	ENSP00000494210.1:n.*2851A>T
ENST00000644595.1:c.2770A>T	ENSP00000494121.1:p.Lys924Ter
ENST00000644629.1:c.2357A>T
ENST00000644841.1:c.*1254A>T	ENSP00000493988.1:n.*1254A>T
ENST00000644959.1:c.2764A>T
ENST00000645553.1:c.2785A>T	ENSP00000494725.1:p.Lys929Ter
ENST00000646085.1:c.*2248A>T	ENSP00000494509.1:n.*2248A>T
ENST00000646277.1:c.*1371A>T	ENSP00000495289.1:n.*1371A>T
ENST00000646544.1:c.1758A>T
ENST00000646699.1:c.2709A>T
ENST00000646793.1:c.2662A>T	ENSP00000494512.1:p.Lys888Ter
ENST00000361150.6:c.2773A>T	ENSP00000354781.2:p.Lys925Ter
ENST00000361510.6:c.2935A>T	ENSP00000355324.2:p.Lys979Ter
ENST00000361715.6:c.2827A>T	ENSP00000355311.2:p.Lys943Ter
ENST00000361828.6:c.2824A>T	ENSP00000354429.2:p.Lys942Ter
ENST00000361908.7:c.2881A>T	ENSP00000354681.3:p.Lys961Ter
ENST00000392438.7:c.2770A>T	ENSP00000376233.3:p.Lys924Ter
ENST00000429164.1:c.57A>T
ENST00000445863.1:c.346A>T	ENSP00000398358.1:p.Lys116Ter
NM_015560.2:c.2770A>T , LRG_337t1:c.2770A>T	NP_056375.2:p.Lys924Ter
NM_130831.2:c.2662A>T	NP_570844.1:p.Lys888Ter
NM_130832.2:c.2716A>T	NP_570845.1:p.Lys906Ter
NM_130833.2:c.2773A>T	NP_570846.1:p.Lys925Ter
NM_130834.2:c.2824A>T	NP_570847.2:p.Lys942Ter
NM_130835.2:c.2827A>T	NP_570848.1:p.Lys943Ter
NM_130836.2:c.2881A>T	NP_570849.2:p.Lys961Ter
NM_130837.2:c.2935A>T , LRG_337t2:c.2935A>T	NP_570850.2:p.Lys979Ter
XM_011512863.1:c.2935A>T	XP_011511165.1:p.Lys979Ter
XM_011512864.1:c.2881A>T	XP_011511166.1:p.Lys961Ter
XM_011512865.1:c.2824A>T	XP_011511167.1:p.Lys942Ter
XM_011512866.1:c.2773A>T	XP_011511168.1:p.Lys925Ter
XM_011512867.1:c.2770A>T	XP_011511169.1:p.Lys924Ter
XM_011512868.1:c.2662A>T	XP_011511170.1:p.Lys888Ter
XR_924835.1:n.582+1688T>A
NM_001354663.1:c.2401A>T	NP_001341592.1:p.Lys801Ter
NM_001354664.1:c.2398A>T	NP_001341593.1:p.Lys800Ter
XR_001740158.2:n.3189A>T
XR_001740159.2:n.3024A>T
XR_001741072.1:n.600+1688T>A
XR_001741074.1:n.475+3576T>A
XR_924835.2:n.600+1688T>A
NM_001354663.2:c.2401A>T	NP_001341592.1:p.Lys801Ter
NM_001354664.2:c.2398A>T	NP_001341593.1:p.Lys800Ter
NM_130831.3:c.2662A>T	NP_570844.1:p.Lys888Ter
NM_130832.3:c.2716A>T	NP_570845.1:p.Lys906Ter
NM_130834.3:c.2824A>T	NP_570847.2:p.Lys942Ter
NM_130836.3:c.2881A>T	NP_570849.2:p.Lys961Ter
NM_015560.3:c.2770A>T	NP_056375.2:p.Lys924Ter
NM_130833.3:c.2773A>T	NP_570846.1:p.Lys925Ter
NM_130835.3:c.2827A>T	NP_570848.1:p.Lys943Ter
NM_130837.3:c.2935A>T MANE Select	NP_570850.2:p.Lys979Ter