Canonical Allele Identifier: CA437441951

Gene: OPA1

Linked Data

• gnomAD v4: 3-193667178-T-C
• MyVariant Identifiers: chr3:g.193384967T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667178T>C , CM000665.2:g.193667178T>C	GRCh38
NC_000003.11:g.193384967T>C , CM000665.1:g.193384967T>C	GRCh37
NC_000003.10:g.194867661T>C	NCBI36
NG_011605.1:g.79035T>C , LRG_337:g.79035T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2881T>C MANE Select	ENSP00000355324.2:p.Leu961=
ENST00000361828.7:c.2716T>C	ENSP00000354429.3:p.Leu906=
ENST00000361908.8:c.2827T>C	ENSP00000354681.3:p.Leu943=
ENST00000392436.7:c.2716T>C	ENSP00000376231.3:p.Leu906=
ENST00000392437.6:c.2770T>C	ENSP00000376232.2:p.Leu924=
ENST00000642289.1:c.2655T>C
ENST00000642445.1:c.2716T>C	ENSP00000495535.1:p.Leu906=
ENST00000642593.1:c.*941T>C	ENSP00000494273.1:n.*941T>C
ENST00000643329.1:c.2398T>C	ENSP00000493673.1:p.Leu800=
ENST00000643737.1:c.*2797T>C	ENSP00000494210.1:n.*2797T>C
ENST00000644595.1:c.2716T>C	ENSP00000494121.1:p.Leu906=
ENST00000644629.1:c.2303T>C
ENST00000644841.1:c.*1200T>C	ENSP00000493988.1:n.*1200T>C
ENST00000644959.1:c.2710T>C
ENST00000645553.1:c.2731T>C	ENSP00000494725.1:p.Leu911=
ENST00000646085.1:c.*2194T>C	ENSP00000494509.1:n.*2194T>C
ENST00000646277.1:c.*1317T>C	ENSP00000495289.1:n.*1317T>C
ENST00000646544.1:c.1704T>C
ENST00000646699.1:c.2655T>C
ENST00000646793.1:c.2608T>C	ENSP00000494512.1:p.Leu870=
ENST00000361150.6:c.2719T>C	ENSP00000354781.2:p.Leu907=
ENST00000361510.6:c.2881T>C	ENSP00000355324.2:p.Leu961=
ENST00000361715.6:c.2773T>C	ENSP00000355311.2:p.Leu925=
ENST00000361828.6:c.2770T>C	ENSP00000354429.2:p.Leu924=
ENST00000361908.7:c.2827T>C	ENSP00000354681.3:p.Leu943=
ENST00000392438.7:c.2716T>C	ENSP00000376233.3:p.Leu906=
ENST00000429164.1:c.3T>C
ENST00000445863.1:c.292T>C	ENSP00000398358.1:p.Leu98=
NM_015560.2:c.2716T>C , LRG_337t1:c.2716T>C	NP_056375.2:p.Leu906=
NM_130831.2:c.2608T>C	NP_570844.1:p.Leu870=
NM_130832.2:c.2662T>C	NP_570845.1:p.Leu888=
NM_130833.2:c.2719T>C	NP_570846.1:p.Leu907=
NM_130834.2:c.2770T>C	NP_570847.2:p.Leu924=
NM_130835.2:c.2773T>C	NP_570848.1:p.Leu925=
NM_130836.2:c.2827T>C	NP_570849.2:p.Leu943=
NM_130837.2:c.2881T>C , LRG_337t2:c.2881T>C	NP_570850.2:p.Leu961=
XM_011512863.1:c.2881T>C	XP_011511165.1:p.Leu961=
XM_011512864.1:c.2827T>C	XP_011511166.1:p.Leu943=
XM_011512865.1:c.2770T>C	XP_011511167.1:p.Leu924=
XM_011512866.1:c.2719T>C	XP_011511168.1:p.Leu907=
XM_011512867.1:c.2716T>C	XP_011511169.1:p.Leu906=
XM_011512868.1:c.2608T>C	XP_011511170.1:p.Leu870=
XR_924835.1:n.582+1742A>G
NM_001354663.1:c.2347T>C	NP_001341592.1:p.Leu783=
NM_001354664.1:c.2344T>C	NP_001341593.1:p.Leu782=
XR_001740158.2:n.3135T>C
XR_001740159.2:n.2970T>C
XR_001741072.1:n.600+1742A>G
XR_001741074.1:n.475+3630A>G
XR_924835.2:n.600+1742A>G
NM_001354663.2:c.2347T>C	NP_001341592.1:p.Leu783=
NM_001354664.2:c.2344T>C	NP_001341593.1:p.Leu782=
NM_130831.3:c.2608T>C	NP_570844.1:p.Leu870=
NM_130832.3:c.2662T>C	NP_570845.1:p.Leu888=
NM_130834.3:c.2770T>C	NP_570847.2:p.Leu924=
NM_130836.3:c.2827T>C	NP_570849.2:p.Leu943=
NM_015560.3:c.2716T>C	NP_056375.2:p.Leu906=
NM_130833.3:c.2719T>C	NP_570846.1:p.Leu907=
NM_130835.3:c.2773T>C	NP_570848.1:p.Leu925=
NM_130837.3:c.2881T>C MANE Select	NP_570850.2:p.Leu961=