Canonical Allele Identifier: CA355788115

Gene: OPA1

Linked Data

• ClinVar Variation Id: 451258
• ClinVar RCV Id: RCV000519528 ; RCV000709838
• dbSNP Id: rs1553876590
• MyVariant Identifiers: chr3:g.193355741G>C (hg19) ; chr3:g.193637952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637952G>C , CM000665.2:g.193637952G>C	GRCh38
NC_000003.11:g.193355741G>C , CM000665.1:g.193355741G>C	GRCh37
NC_000003.10:g.194838435G>C	NCBI36
NG_011605.1:g.49809G>C , LRG_337:g.49809G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1036G>C MANE Select	ENSP00000355324.2:p.Val346Leu
ENST00000361828.7:c.871G>C	ENSP00000354429.3:p.Val291Leu
ENST00000361908.8:c.982G>C	ENSP00000354681.3:p.Val328Leu
ENST00000392436.7:c.871G>C	ENSP00000376231.3:p.Val291Leu
ENST00000392437.6:c.925G>C	ENSP00000376232.2:p.Val309Leu
ENST00000642289.1:c.966G>C
ENST00000642445.1:c.871G>C	ENSP00000495535.1:p.Val291Leu
ENST00000642593.1:c.871G>C	ENSP00000494273.1:p.Val291Leu
ENST00000643329.1:c.553G>C	ENSP00000493673.1:p.Val185Leu
ENST00000643737.1:c.*952G>C	ENSP00000494210.1:n.*952G>C
ENST00000644595.1:c.871G>C	ENSP00000494121.1:p.Val291Leu
ENST00000644629.1:c.531G>C
ENST00000644841.1:c.499G>C	ENSP00000493988.1:p.Val167Leu
ENST00000644959.1:c.840G>C
ENST00000645553.1:c.886G>C	ENSP00000494725.1:p.Val296Leu
ENST00000646085.1:c.*349G>C	ENSP00000494509.1:n.*349G>C
ENST00000646277.1:c.1036G>C	ENSP00000495289.1:p.Val346Leu
ENST00000646699.1:c.966G>C
ENST00000646793.1:c.763G>C	ENSP00000494512.1:p.Val255Leu
ENST00000361150.6:c.874G>C	ENSP00000354781.2:p.Val292Leu
ENST00000361510.6:c.1036G>C	ENSP00000355324.2:p.Val346Leu
ENST00000361715.6:c.928G>C	ENSP00000355311.2:p.Val310Leu
ENST00000361828.6:c.925G>C	ENSP00000354429.2:p.Val309Leu
ENST00000361908.7:c.982G>C	ENSP00000354681.3:p.Val328Leu
ENST00000392438.7:c.871G>C	ENSP00000376233.3:p.Val291Leu
ENST00000475899.1:n.67G>C
ENST00000495476.1:n.392G>C
ENST00000497189.5:n.357G>C
NM_015560.2:c.871G>C , LRG_337t1:c.871G>C	NP_056375.2:p.Val291Leu
NM_130831.2:c.763G>C	NP_570844.1:p.Val255Leu
NM_130832.2:c.817G>C	NP_570845.1:p.Val273Leu
NM_130833.2:c.874G>C	NP_570846.1:p.Val292Leu
NM_130834.2:c.925G>C	NP_570847.2:p.Val309Leu
NM_130835.2:c.928G>C	NP_570848.1:p.Val310Leu
NM_130836.2:c.982G>C	NP_570849.2:p.Val328Leu
NM_130837.2:c.1036G>C , LRG_337t2:c.1036G>C	NP_570850.2:p.Val346Leu
XM_011512863.1:c.1036G>C	XP_011511165.1:p.Val346Leu
XM_011512864.1:c.982G>C	XP_011511166.1:p.Val328Leu
XM_011512865.1:c.925G>C	XP_011511167.1:p.Val309Leu
XM_011512866.1:c.874G>C	XP_011511168.1:p.Val292Leu
XM_011512867.1:c.871G>C	XP_011511169.1:p.Val291Leu
XM_011512868.1:c.763G>C	XP_011511170.1:p.Val255Leu
XM_011512869.1:c.1036G>C	XP_011511171.1:p.Val346Leu
NM_001354663.1:c.502G>C	NP_001341592.1:p.Val168Leu
NM_001354664.1:c.499G>C	NP_001341593.1:p.Val167Leu
XR_001740158.2:n.1265G>C
XR_001740159.2:n.1100G>C
NM_001354663.2:c.502G>C	NP_001341592.1:p.Val168Leu
NM_001354664.2:c.499G>C	NP_001341593.1:p.Val167Leu
NM_130831.3:c.763G>C	NP_570844.1:p.Val255Leu
NM_130832.3:c.817G>C	NP_570845.1:p.Val273Leu
NM_130834.3:c.925G>C	NP_570847.2:p.Val309Leu
NM_130836.3:c.982G>C	NP_570849.2:p.Val328Leu
NM_015560.3:c.871G>C	NP_056375.2:p.Val291Leu
NM_130833.3:c.874G>C	NP_570846.1:p.Val292Leu
NM_130835.3:c.928G>C	NP_570848.1:p.Val310Leu
NM_130837.3:c.1036G>C MANE Select	NP_570850.2:p.Val346Leu