Canonical Allele Identifier: CA355788838

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2700435
• ClinVar RCV Id: RCV003547225
• MyVariant Identifiers: chr3:g.193360581G>T (hg19) ; chr3:g.193642792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642792G>T , CM000665.2:g.193642792G>T	GRCh38
NC_000003.11:g.193360581G>T , CM000665.1:g.193360581G>T	GRCh37
NC_000003.10:g.194843275G>T	NCBI36
NG_011605.1:g.54649G>T , LRG_337:g.54649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1177G>T MANE Select	ENSP00000355324.2:p.Val393Leu
ENST00000361828.7:c.1012G>T	ENSP00000354429.3:p.Val338Leu
ENST00000361908.8:c.1123G>T	ENSP00000354681.3:p.Val375Leu
ENST00000392436.7:c.1012G>T	ENSP00000376231.3:p.Val338Leu
ENST00000392437.6:c.1066G>T	ENSP00000376232.2:p.Val356Leu
ENST00000642289.1:c.1080-581G>T
ENST00000642445.1:c.1012G>T	ENSP00000495535.1:p.Val338Leu
ENST00000642593.1:c.1012G>T	ENSP00000494273.1:p.Val338Leu
ENST00000643329.1:c.694G>T	ENSP00000493673.1:p.Val232Leu
ENST00000643737.1:c.*1093G>T	ENSP00000494210.1:n.*1093G>T
ENST00000644595.1:c.1012G>T	ENSP00000494121.1:p.Val338Leu
ENST00000644629.1:c.672G>T
ENST00000644841.1:c.640G>T	ENSP00000493988.1:p.Val214Leu
ENST00000644959.1:c.981G>T
ENST00000645553.1:c.1027G>T	ENSP00000494725.1:p.Val343Leu
ENST00000646085.1:c.*490G>T	ENSP00000494509.1:n.*490G>T
ENST00000646277.1:c.1177G>T	ENSP00000495289.1:p.Val393Leu
ENST00000646544.1:c.75G>T
ENST00000646699.1:c.1080-581G>T
ENST00000646793.1:c.904G>T	ENSP00000494512.1:p.Val302Leu
ENST00000361150.6:c.1015G>T	ENSP00000354781.2:p.Val339Leu
ENST00000361510.6:c.1177G>T	ENSP00000355324.2:p.Val393Leu
ENST00000361715.6:c.1069G>T	ENSP00000355311.2:p.Val357Leu
ENST00000361828.6:c.1066G>T	ENSP00000354429.2:p.Val356Leu
ENST00000361908.7:c.1123G>T	ENSP00000354681.3:p.Val375Leu
ENST00000392438.7:c.1012G>T	ENSP00000376233.3:p.Val338Leu
ENST00000475899.1:n.208G>T
ENST00000497189.5:n.498G>T
NM_015560.2:c.1012G>T , LRG_337t1:c.1012G>T	NP_056375.2:p.Val338Leu
NM_130831.2:c.904G>T	NP_570844.1:p.Val302Leu
NM_130832.2:c.958G>T	NP_570845.1:p.Val320Leu
NM_130833.2:c.1015G>T	NP_570846.1:p.Val339Leu
NM_130834.2:c.1066G>T	NP_570847.2:p.Val356Leu
NM_130835.2:c.1069G>T	NP_570848.1:p.Val357Leu
NM_130836.2:c.1123G>T	NP_570849.2:p.Val375Leu
NM_130837.2:c.1177G>T , LRG_337t2:c.1177G>T	NP_570850.2:p.Val393Leu
XM_011512863.1:c.1177G>T	XP_011511165.1:p.Val393Leu
XM_011512864.1:c.1123G>T	XP_011511166.1:p.Val375Leu
XM_011512865.1:c.1066G>T	XP_011511167.1:p.Val356Leu
XM_011512866.1:c.1015G>T	XP_011511168.1:p.Val339Leu
XM_011512867.1:c.1012G>T	XP_011511169.1:p.Val338Leu
XM_011512868.1:c.904G>T	XP_011511170.1:p.Val302Leu
XM_011512869.1:c.1177G>T	XP_011511171.1:p.Val393Leu
NM_001354663.1:c.643G>T	NP_001341592.1:p.Val215Leu
NM_001354664.1:c.640G>T	NP_001341593.1:p.Val214Leu
XR_001740158.2:n.1406G>T
XR_001740159.2:n.1241G>T
NM_001354663.2:c.643G>T	NP_001341592.1:p.Val215Leu
NM_001354664.2:c.640G>T	NP_001341593.1:p.Val214Leu
NM_130831.3:c.904G>T	NP_570844.1:p.Val302Leu
NM_130832.3:c.958G>T	NP_570845.1:p.Val320Leu
NM_130834.3:c.1066G>T	NP_570847.2:p.Val356Leu
NM_130836.3:c.1123G>T	NP_570849.2:p.Val375Leu
NM_015560.3:c.1012G>T	NP_056375.2:p.Val338Leu
NM_130833.3:c.1015G>T	NP_570846.1:p.Val339Leu
NM_130835.3:c.1069G>T	NP_570848.1:p.Val357Leu
NM_130837.3:c.1177G>T MANE Select	NP_570850.2:p.Val393Leu