Canonical Allele Identifier: CA355788117

Gene: OPA1

Linked Data

• ClinVar Variation Id: 447907
• ClinVar RCV Id: RCV000516478
• dbSNP Id: rs1553876592
• MyVariant Identifiers: chr3:g.193355742T>A (hg19) ; chr3:g.193637953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637953T>A , CM000665.2:g.193637953T>A	GRCh38
NC_000003.11:g.193355742T>A , CM000665.1:g.193355742T>A	GRCh37
NC_000003.10:g.194838436T>A	NCBI36
NG_011605.1:g.49810T>A , LRG_337:g.49810T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1037T>A MANE Select	ENSP00000355324.2:p.Val346Asp
ENST00000361828.7:c.872T>A	ENSP00000354429.3:p.Val291Asp
ENST00000361908.8:c.983T>A	ENSP00000354681.3:p.Val328Asp
ENST00000392436.7:c.872T>A	ENSP00000376231.3:p.Val291Asp
ENST00000392437.6:c.926T>A	ENSP00000376232.2:p.Val309Asp
ENST00000642289.1:c.967T>A
ENST00000642445.1:c.872T>A	ENSP00000495535.1:p.Val291Asp
ENST00000642593.1:c.872T>A	ENSP00000494273.1:p.Val291Asp
ENST00000643329.1:c.554T>A	ENSP00000493673.1:p.Val185Asp
ENST00000643737.1:c.*953T>A	ENSP00000494210.1:n.*953T>A
ENST00000644595.1:c.872T>A	ENSP00000494121.1:p.Val291Asp
ENST00000644629.1:c.532T>A
ENST00000644841.1:c.500T>A	ENSP00000493988.1:p.Val167Asp
ENST00000644959.1:c.841T>A
ENST00000645553.1:c.887T>A	ENSP00000494725.1:p.Val296Asp
ENST00000646085.1:c.*350T>A	ENSP00000494509.1:n.*350T>A
ENST00000646277.1:c.1037T>A	ENSP00000495289.1:p.Val346Asp
ENST00000646699.1:c.967T>A
ENST00000646793.1:c.764T>A	ENSP00000494512.1:p.Val255Asp
ENST00000361150.6:c.875T>A	ENSP00000354781.2:p.Val292Asp
ENST00000361510.6:c.1037T>A	ENSP00000355324.2:p.Val346Asp
ENST00000361715.6:c.929T>A	ENSP00000355311.2:p.Val310Asp
ENST00000361828.6:c.926T>A	ENSP00000354429.2:p.Val309Asp
ENST00000361908.7:c.983T>A	ENSP00000354681.3:p.Val328Asp
ENST00000392438.7:c.872T>A	ENSP00000376233.3:p.Val291Asp
ENST00000475899.1:n.68T>A
ENST00000495476.1:n.393T>A
ENST00000497189.5:n.358T>A
NM_015560.2:c.872T>A , LRG_337t1:c.872T>A	NP_056375.2:p.Val291Asp
NM_130831.2:c.764T>A	NP_570844.1:p.Val255Asp
NM_130832.2:c.818T>A	NP_570845.1:p.Val273Asp
NM_130833.2:c.875T>A	NP_570846.1:p.Val292Asp
NM_130834.2:c.926T>A	NP_570847.2:p.Val309Asp
NM_130835.2:c.929T>A	NP_570848.1:p.Val310Asp
NM_130836.2:c.983T>A	NP_570849.2:p.Val328Asp
NM_130837.2:c.1037T>A , LRG_337t2:c.1037T>A	NP_570850.2:p.Val346Asp
XM_011512863.1:c.1037T>A	XP_011511165.1:p.Val346Asp
XM_011512864.1:c.983T>A	XP_011511166.1:p.Val328Asp
XM_011512865.1:c.926T>A	XP_011511167.1:p.Val309Asp
XM_011512866.1:c.875T>A	XP_011511168.1:p.Val292Asp
XM_011512867.1:c.872T>A	XP_011511169.1:p.Val291Asp
XM_011512868.1:c.764T>A	XP_011511170.1:p.Val255Asp
XM_011512869.1:c.1037T>A	XP_011511171.1:p.Val346Asp
NM_001354663.1:c.503T>A	NP_001341592.1:p.Val168Asp
NM_001354664.1:c.500T>A	NP_001341593.1:p.Val167Asp
XR_001740158.2:n.1266T>A
XR_001740159.2:n.1101T>A
NM_001354663.2:c.503T>A	NP_001341592.1:p.Val168Asp
NM_001354664.2:c.500T>A	NP_001341593.1:p.Val167Asp
NM_130831.3:c.764T>A	NP_570844.1:p.Val255Asp
NM_130832.3:c.818T>A	NP_570845.1:p.Val273Asp
NM_130834.3:c.926T>A	NP_570847.2:p.Val309Asp
NM_130836.3:c.983T>A	NP_570849.2:p.Val328Asp
NM_015560.3:c.872T>A	NP_056375.2:p.Val291Asp
NM_130833.3:c.875T>A	NP_570846.1:p.Val292Asp
NM_130835.3:c.929T>A	NP_570848.1:p.Val310Asp
NM_130837.3:c.1037T>A MANE Select	NP_570850.2:p.Val346Asp