Canonical Allele Identifier: CA355788914

Gene: OPA1

Linked Data

• COSMIC: COSM6097310
• MyVariant Identifiers: chr3:g.193360615A>T (hg19) ; chr3:g.193642826A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642826A>T , CM000665.2:g.193642826A>T	GRCh38
NC_000003.11:g.193360615A>T , CM000665.1:g.193360615A>T	GRCh37
NC_000003.10:g.194843309A>T	NCBI36
NG_011605.1:g.54683A>T , LRG_337:g.54683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1211A>T MANE Select	ENSP00000355324.2:p.Asp404Val
ENST00000361828.7:c.1046A>T	ENSP00000354429.3:p.Asp349Val
ENST00000361908.8:c.1157A>T	ENSP00000354681.3:p.Asp386Val
ENST00000392436.7:c.1046A>T	ENSP00000376231.3:p.Asp349Val
ENST00000392437.6:c.1100A>T	ENSP00000376232.2:p.Asp367Val
ENST00000642289.1:c.1080-547A>T
ENST00000642445.1:c.1046A>T	ENSP00000495535.1:p.Asp349Val
ENST00000642593.1:c.1046A>T	ENSP00000494273.1:p.Asp349Val
ENST00000643329.1:c.728A>T	ENSP00000493673.1:p.Asp243Val
ENST00000643737.1:c.*1127A>T	ENSP00000494210.1:n.*1127A>T
ENST00000644595.1:c.1046A>T	ENSP00000494121.1:p.Asp349Val
ENST00000644629.1:c.706A>T
ENST00000644841.1:c.674A>T	ENSP00000493988.1:p.Asp225Val
ENST00000644959.1:c.1015A>T
ENST00000645553.1:c.1061A>T	ENSP00000494725.1:p.Asp354Val
ENST00000646085.1:c.*524A>T	ENSP00000494509.1:n.*524A>T
ENST00000646277.1:c.1211A>T	ENSP00000495289.1:p.Asp404Val
ENST00000646544.1:c.109A>T
ENST00000646699.1:c.1080-547A>T
ENST00000646793.1:c.938A>T	ENSP00000494512.1:p.Asp313Val
ENST00000361150.6:c.1049A>T	ENSP00000354781.2:p.Asp350Val
ENST00000361510.6:c.1211A>T	ENSP00000355324.2:p.Asp404Val
ENST00000361715.6:c.1103A>T	ENSP00000355311.2:p.Asp368Val
ENST00000361828.6:c.1100A>T	ENSP00000354429.2:p.Asp367Val
ENST00000361908.7:c.1157A>T	ENSP00000354681.3:p.Asp386Val
ENST00000392438.7:c.1046A>T	ENSP00000376233.3:p.Asp349Val
ENST00000475899.1:n.242A>T
ENST00000497189.5:n.532A>T
NM_015560.2:c.1046A>T , LRG_337t1:c.1046A>T	NP_056375.2:p.Asp349Val
NM_130831.2:c.938A>T	NP_570844.1:p.Asp313Val
NM_130832.2:c.992A>T	NP_570845.1:p.Asp331Val
NM_130833.2:c.1049A>T	NP_570846.1:p.Asp350Val
NM_130834.2:c.1100A>T	NP_570847.2:p.Asp367Val
NM_130835.2:c.1103A>T	NP_570848.1:p.Asp368Val
NM_130836.2:c.1157A>T	NP_570849.2:p.Asp386Val
NM_130837.2:c.1211A>T , LRG_337t2:c.1211A>T	NP_570850.2:p.Asp404Val
XM_011512863.1:c.1211A>T	XP_011511165.1:p.Asp404Val
XM_011512864.1:c.1157A>T	XP_011511166.1:p.Asp386Val
XM_011512865.1:c.1100A>T	XP_011511167.1:p.Asp367Val
XM_011512866.1:c.1049A>T	XP_011511168.1:p.Asp350Val
XM_011512867.1:c.1046A>T	XP_011511169.1:p.Asp349Val
XM_011512868.1:c.938A>T	XP_011511170.1:p.Asp313Val
XM_011512869.1:c.1211A>T	XP_011511171.1:p.Asp404Val
NM_001354663.1:c.677A>T	NP_001341592.1:p.Asp226Val
NM_001354664.1:c.674A>T	NP_001341593.1:p.Asp225Val
XR_001740158.2:n.1440A>T
XR_001740159.2:n.1275A>T
NM_001354663.2:c.677A>T	NP_001341592.1:p.Asp226Val
NM_001354664.2:c.674A>T	NP_001341593.1:p.Asp225Val
NM_130831.3:c.938A>T	NP_570844.1:p.Asp313Val
NM_130832.3:c.992A>T	NP_570845.1:p.Asp331Val
NM_130834.3:c.1100A>T	NP_570847.2:p.Asp367Val
NM_130836.3:c.1157A>T	NP_570849.2:p.Asp386Val
NM_015560.3:c.1046A>T	NP_056375.2:p.Asp349Val
NM_130833.3:c.1049A>T	NP_570846.1:p.Asp350Val
NM_130835.3:c.1103A>T	NP_570848.1:p.Asp368Val
NM_130837.3:c.1211A>T MANE Select	NP_570850.2:p.Asp404Val