Canonical Allele Identifier: CA355788114

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355741G>T (hg19) ; chr3:g.193637952G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1036G>T MANE Select	ENSP00000355324.2:p.Val346Phe
ENST00000361828.7:c.871G>T	ENSP00000354429.3:p.Val291Phe
ENST00000361908.8:c.982G>T	ENSP00000354681.3:p.Val328Phe
ENST00000392436.7:c.871G>T	ENSP00000376231.3:p.Val291Phe
ENST00000392437.6:c.925G>T	ENSP00000376232.2:p.Val309Phe
ENST00000642289.1:c.966G>T
ENST00000642445.1:c.871G>T	ENSP00000495535.1:p.Val291Phe
ENST00000642593.1:c.871G>T	ENSP00000494273.1:p.Val291Phe
ENST00000643329.1:c.553G>T	ENSP00000493673.1:p.Val185Phe
ENST00000643737.1:c.*952G>T	ENSP00000494210.1:n.*952G>T
ENST00000644595.1:c.871G>T	ENSP00000494121.1:p.Val291Phe
ENST00000644629.1:c.531G>T
ENST00000644841.1:c.499G>T	ENSP00000493988.1:p.Val167Phe
ENST00000644959.1:c.840G>T
ENST00000645553.1:c.886G>T	ENSP00000494725.1:p.Val296Phe
ENST00000646085.1:c.*349G>T	ENSP00000494509.1:n.*349G>T
ENST00000646277.1:c.1036G>T	ENSP00000495289.1:p.Val346Phe
ENST00000646699.1:c.966G>T
ENST00000646793.1:c.763G>T	ENSP00000494512.1:p.Val255Phe
ENST00000361150.6:c.874G>T	ENSP00000354781.2:p.Val292Phe
ENST00000361510.6:c.1036G>T	ENSP00000355324.2:p.Val346Phe
ENST00000361715.6:c.928G>T	ENSP00000355311.2:p.Val310Phe
ENST00000361828.6:c.925G>T	ENSP00000354429.2:p.Val309Phe
ENST00000361908.7:c.982G>T	ENSP00000354681.3:p.Val328Phe
ENST00000392438.7:c.871G>T	ENSP00000376233.3:p.Val291Phe
ENST00000475899.1:n.67G>T
ENST00000495476.1:n.392G>T
ENST00000497189.5:n.357G>T
NM_015560.2:c.871G>T , LRG_337t1:c.871G>T	NP_056375.2:p.Val291Phe
NM_130831.2:c.763G>T	NP_570844.1:p.Val255Phe
NM_130832.2:c.817G>T	NP_570845.1:p.Val273Phe
NM_130833.2:c.874G>T	NP_570846.1:p.Val292Phe
NM_130834.2:c.925G>T	NP_570847.2:p.Val309Phe
NM_130835.2:c.928G>T	NP_570848.1:p.Val310Phe
NM_130836.2:c.982G>T	NP_570849.2:p.Val328Phe
NM_130837.2:c.1036G>T , LRG_337t2:c.1036G>T	NP_570850.2:p.Val346Phe
XM_011512863.1:c.1036G>T	XP_011511165.1:p.Val346Phe
XM_011512864.1:c.982G>T	XP_011511166.1:p.Val328Phe
XM_011512865.1:c.925G>T	XP_011511167.1:p.Val309Phe
XM_011512866.1:c.874G>T	XP_011511168.1:p.Val292Phe
XM_011512867.1:c.871G>T	XP_011511169.1:p.Val291Phe
XM_011512868.1:c.763G>T	XP_011511170.1:p.Val255Phe
XM_011512869.1:c.1036G>T	XP_011511171.1:p.Val346Phe
NM_001354663.1:c.502G>T	NP_001341592.1:p.Val168Phe
NM_001354664.1:c.499G>T	NP_001341593.1:p.Val167Phe
XR_001740158.2:n.1265G>T
XR_001740159.2:n.1100G>T
NM_001354663.2:c.502G>T	NP_001341592.1:p.Val168Phe
NM_001354664.2:c.499G>T	NP_001341593.1:p.Val167Phe
NM_130831.3:c.763G>T	NP_570844.1:p.Val255Phe
NM_130832.3:c.817G>T	NP_570845.1:p.Val273Phe
NM_130834.3:c.925G>T	NP_570847.2:p.Val309Phe
NM_130836.3:c.982G>T	NP_570849.2:p.Val328Phe
NM_015560.3:c.871G>T	NP_056375.2:p.Val291Phe
NM_130833.3:c.874G>T	NP_570846.1:p.Val292Phe
NM_130835.3:c.928G>T	NP_570848.1:p.Val310Phe
NM_130837.3:c.1036G>T MANE Select	NP_570850.2:p.Val346Phe