Canonical Allele Identifier: CA355788840

Gene: OPA1

Linked Data

• gnomAD v4: 3-193642793-T-C
• MyVariant Identifiers: chr3:g.193360582T>C (hg19) ; chr3:g.193642793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642793T>C , CM000665.2:g.193642793T>C	GRCh38
NC_000003.11:g.193360582T>C , CM000665.1:g.193360582T>C	GRCh37
NC_000003.10:g.194843276T>C	NCBI36
NG_011605.1:g.54650T>C , LRG_337:g.54650T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1178T>C MANE Select	ENSP00000355324.2:p.Val393Ala
ENST00000361828.7:c.1013T>C	ENSP00000354429.3:p.Val338Ala
ENST00000361908.8:c.1124T>C	ENSP00000354681.3:p.Val375Ala
ENST00000392436.7:c.1013T>C	ENSP00000376231.3:p.Val338Ala
ENST00000392437.6:c.1067T>C	ENSP00000376232.2:p.Val356Ala
ENST00000642289.1:c.1080-580T>C
ENST00000642445.1:c.1013T>C	ENSP00000495535.1:p.Val338Ala
ENST00000642593.1:c.1013T>C	ENSP00000494273.1:p.Val338Ala
ENST00000643329.1:c.695T>C	ENSP00000493673.1:p.Val232Ala
ENST00000643737.1:c.*1094T>C	ENSP00000494210.1:n.*1094T>C
ENST00000644595.1:c.1013T>C	ENSP00000494121.1:p.Val338Ala
ENST00000644629.1:c.673T>C
ENST00000644841.1:c.641T>C	ENSP00000493988.1:p.Val214Ala
ENST00000644959.1:c.982T>C
ENST00000645553.1:c.1028T>C	ENSP00000494725.1:p.Val343Ala
ENST00000646085.1:c.*491T>C	ENSP00000494509.1:n.*491T>C
ENST00000646277.1:c.1178T>C	ENSP00000495289.1:p.Val393Ala
ENST00000646544.1:c.76T>C
ENST00000646699.1:c.1080-580T>C
ENST00000646793.1:c.905T>C	ENSP00000494512.1:p.Val302Ala
ENST00000361150.6:c.1016T>C	ENSP00000354781.2:p.Val339Ala
ENST00000361510.6:c.1178T>C	ENSP00000355324.2:p.Val393Ala
ENST00000361715.6:c.1070T>C	ENSP00000355311.2:p.Val357Ala
ENST00000361828.6:c.1067T>C	ENSP00000354429.2:p.Val356Ala
ENST00000361908.7:c.1124T>C	ENSP00000354681.3:p.Val375Ala
ENST00000392438.7:c.1013T>C	ENSP00000376233.3:p.Val338Ala
ENST00000475899.1:n.209T>C
ENST00000497189.5:n.499T>C
NM_015560.2:c.1013T>C , LRG_337t1:c.1013T>C	NP_056375.2:p.Val338Ala
NM_130831.2:c.905T>C	NP_570844.1:p.Val302Ala
NM_130832.2:c.959T>C	NP_570845.1:p.Val320Ala
NM_130833.2:c.1016T>C	NP_570846.1:p.Val339Ala
NM_130834.2:c.1067T>C	NP_570847.2:p.Val356Ala
NM_130835.2:c.1070T>C	NP_570848.1:p.Val357Ala
NM_130836.2:c.1124T>C	NP_570849.2:p.Val375Ala
NM_130837.2:c.1178T>C , LRG_337t2:c.1178T>C	NP_570850.2:p.Val393Ala
XM_011512863.1:c.1178T>C	XP_011511165.1:p.Val393Ala
XM_011512864.1:c.1124T>C	XP_011511166.1:p.Val375Ala
XM_011512865.1:c.1067T>C	XP_011511167.1:p.Val356Ala
XM_011512866.1:c.1016T>C	XP_011511168.1:p.Val339Ala
XM_011512867.1:c.1013T>C	XP_011511169.1:p.Val338Ala
XM_011512868.1:c.905T>C	XP_011511170.1:p.Val302Ala
XM_011512869.1:c.1178T>C	XP_011511171.1:p.Val393Ala
NM_001354663.1:c.644T>C	NP_001341592.1:p.Val215Ala
NM_001354664.1:c.641T>C	NP_001341593.1:p.Val214Ala
XR_001740158.2:n.1407T>C
XR_001740159.2:n.1242T>C
NM_001354663.2:c.644T>C	NP_001341592.1:p.Val215Ala
NM_001354664.2:c.641T>C	NP_001341593.1:p.Val214Ala
NM_130831.3:c.905T>C	NP_570844.1:p.Val302Ala
NM_130832.3:c.959T>C	NP_570845.1:p.Val320Ala
NM_130834.3:c.1067T>C	NP_570847.2:p.Val356Ala
NM_130836.3:c.1124T>C	NP_570849.2:p.Val375Ala
NM_015560.3:c.1013T>C	NP_056375.2:p.Val338Ala
NM_130833.3:c.1016T>C	NP_570846.1:p.Val339Ala
NM_130835.3:c.1070T>C	NP_570848.1:p.Val357Ala
NM_130837.3:c.1178T>C MANE Select	NP_570850.2:p.Val393Ala