Canonical Allele Identifier: CA355797697

Gene: OPA1

Linked Data

• gnomAD v4: 3-193667248-C-A
• MyVariant Identifiers: chr3:g.193385037C>A (hg19) ; chr3:g.193667248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667248C>A , CM000665.2:g.193667248C>A	GRCh38
NC_000003.11:g.193385037C>A , CM000665.1:g.193385037C>A	GRCh37
NC_000003.10:g.194867731C>A	NCBI36
NG_011605.1:g.79105C>A , LRG_337:g.79105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2951C>A MANE Select	ENSP00000355324.2:p.Thr984Asn
ENST00000361828.7:c.2786C>A	ENSP00000354429.3:p.Thr929Asn
ENST00000361908.8:c.2897C>A	ENSP00000354681.3:p.Thr966Asn
ENST00000392436.7:c.2786C>A	ENSP00000376231.3:p.Thr929Asn
ENST00000392437.6:c.2840C>A	ENSP00000376232.2:p.Thr947Asn
ENST00000642289.1:c.2725C>A
ENST00000642445.1:c.2786C>A	ENSP00000495535.1:p.Thr929Asn
ENST00000642593.1:c.*1011C>A	ENSP00000494273.1:n.*1011C>A
ENST00000643329.1:c.2468C>A	ENSP00000493673.1:p.Thr823Asn
ENST00000643737.1:c.*2867C>A	ENSP00000494210.1:n.*2867C>A
ENST00000644595.1:c.2786C>A	ENSP00000494121.1:p.Thr929Asn
ENST00000644629.1:c.2373C>A
ENST00000644841.1:c.*1270C>A	ENSP00000493988.1:n.*1270C>A
ENST00000644959.1:c.2780C>A
ENST00000645553.1:c.2801C>A	ENSP00000494725.1:p.Thr934Asn
ENST00000646085.1:c.*2264C>A	ENSP00000494509.1:n.*2264C>A
ENST00000646277.1:c.*1387C>A	ENSP00000495289.1:n.*1387C>A
ENST00000646544.1:c.1774C>A
ENST00000646699.1:c.2725C>A
ENST00000646793.1:c.2678C>A	ENSP00000494512.1:p.Thr893Asn
ENST00000361150.6:c.2789C>A	ENSP00000354781.2:p.Thr930Asn
ENST00000361510.6:c.2951C>A	ENSP00000355324.2:p.Thr984Asn
ENST00000361715.6:c.2843C>A	ENSP00000355311.2:p.Thr948Asn
ENST00000361828.6:c.2840C>A	ENSP00000354429.2:p.Thr947Asn
ENST00000361908.7:c.2897C>A	ENSP00000354681.3:p.Thr966Asn
ENST00000392438.7:c.2786C>A	ENSP00000376233.3:p.Thr929Asn
ENST00000429164.1:c.73C>A
ENST00000445863.1:c.362C>A	ENSP00000398358.1:p.Thr121Asn
NM_015560.2:c.2786C>A , LRG_337t1:c.2786C>A	NP_056375.2:p.Thr929Asn
NM_130831.2:c.2678C>A	NP_570844.1:p.Thr893Asn
NM_130832.2:c.2732C>A	NP_570845.1:p.Thr911Asn
NM_130833.2:c.2789C>A	NP_570846.1:p.Thr930Asn
NM_130834.2:c.2840C>A	NP_570847.2:p.Thr947Asn
NM_130835.2:c.2843C>A	NP_570848.1:p.Thr948Asn
NM_130836.2:c.2897C>A	NP_570849.2:p.Thr966Asn
NM_130837.2:c.2951C>A , LRG_337t2:c.2951C>A	NP_570850.2:p.Thr984Asn
XM_011512863.1:c.2951C>A	XP_011511165.1:p.Thr984Asn
XM_011512864.1:c.2897C>A	XP_011511166.1:p.Thr966Asn
XM_011512865.1:c.2840C>A	XP_011511167.1:p.Thr947Asn
XM_011512866.1:c.2789C>A	XP_011511168.1:p.Thr930Asn
XM_011512867.1:c.2786C>A	XP_011511169.1:p.Thr929Asn
XM_011512868.1:c.2678C>A	XP_011511170.1:p.Thr893Asn
XR_924835.1:n.582+1672G>T
NM_001354663.1:c.2417C>A	NP_001341592.1:p.Thr806Asn
NM_001354664.1:c.2414C>A	NP_001341593.1:p.Thr805Asn
XR_001740158.2:n.3205C>A
XR_001740159.2:n.3040C>A
XR_001741072.1:n.600+1672G>T
XR_001741074.1:n.475+3560G>T
XR_924835.2:n.600+1672G>T
NM_001354663.2:c.2417C>A	NP_001341592.1:p.Thr806Asn
NM_001354664.2:c.2414C>A	NP_001341593.1:p.Thr805Asn
NM_130831.3:c.2678C>A	NP_570844.1:p.Thr893Asn
NM_130832.3:c.2732C>A	NP_570845.1:p.Thr911Asn
NM_130834.3:c.2840C>A	NP_570847.2:p.Thr947Asn
NM_130836.3:c.2897C>A	NP_570849.2:p.Thr966Asn
NM_015560.3:c.2786C>A	NP_056375.2:p.Thr929Asn
NM_130833.3:c.2789C>A	NP_570846.1:p.Thr930Asn
NM_130835.3:c.2843C>A	NP_570848.1:p.Thr948Asn
NM_130837.3:c.2951C>A MANE Select	NP_570850.2:p.Thr984Asn