Canonical Allele Identifier: CA355797890

Gene: OPA1

Linked Data

• dbSNP Id: rs1251088119
• gnomAD v2: 3-193385063-G-A
• gnomAD v4: 3-193667274-G-A
• MyVariant Identifiers: chr3:g.193385063G>A (hg19) ; chr3:g.193667274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667274G>A , CM000665.2:g.193667274G>A	GRCh38
NC_000003.11:g.193385063G>A , CM000665.1:g.193385063G>A	GRCh37
NC_000003.10:g.194867757G>A	NCBI36
NG_011605.1:g.79131G>A , LRG_337:g.79131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2977G>A MANE Select	ENSP00000355324.2:p.Asp993Asn
ENST00000361828.7:c.2812G>A	ENSP00000354429.3:p.Asp938Asn
ENST00000361908.8:c.2923G>A	ENSP00000354681.3:p.Asp975Asn
ENST00000392436.7:c.2812G>A	ENSP00000376231.3:p.Asp938Asn
ENST00000392437.6:c.2866G>A	ENSP00000376232.2:p.Asp956Asn
ENST00000642289.1:c.2751G>A
ENST00000642445.1:c.2812G>A	ENSP00000495535.1:p.Asp938Asn
ENST00000642593.1:c.*1037G>A	ENSP00000494273.1:n.*1037G>A
ENST00000643329.1:c.2494G>A	ENSP00000493673.1:p.Asp832Asn
ENST00000643737.1:c.*2893G>A	ENSP00000494210.1:n.*2893G>A
ENST00000644595.1:c.2812G>A	ENSP00000494121.1:p.Asp938Asn
ENST00000644629.1:c.2399G>A
ENST00000644841.1:c.*1296G>A	ENSP00000493988.1:n.*1296G>A
ENST00000644959.1:c.2806G>A
ENST00000645553.1:c.2827G>A	ENSP00000494725.1:p.Asp943Asn
ENST00000646085.1:c.*2290G>A	ENSP00000494509.1:n.*2290G>A
ENST00000646277.1:c.*1413G>A	ENSP00000495289.1:n.*1413G>A
ENST00000646544.1:c.1800G>A
ENST00000646699.1:c.2751G>A
ENST00000646793.1:c.2704G>A	ENSP00000494512.1:p.Asp902Asn
ENST00000361150.6:c.2815G>A	ENSP00000354781.2:p.Asp939Asn
ENST00000361510.6:c.2977G>A	ENSP00000355324.2:p.Asp993Asn
ENST00000361715.6:c.2869G>A	ENSP00000355311.2:p.Asp957Asn
ENST00000361828.6:c.2866G>A	ENSP00000354429.2:p.Asp956Asn
ENST00000361908.7:c.2923G>A	ENSP00000354681.3:p.Asp975Asn
ENST00000392438.7:c.2812G>A	ENSP00000376233.3:p.Asp938Asn
ENST00000429164.1:c.99G>A
ENST00000445863.1:c.388G>A	ENSP00000398358.1:p.Asp130Asn
NM_015560.2:c.2812G>A , LRG_337t1:c.2812G>A	NP_056375.2:p.Asp938Asn
NM_130831.2:c.2704G>A	NP_570844.1:p.Asp902Asn
NM_130832.2:c.2758G>A	NP_570845.1:p.Asp920Asn
NM_130833.2:c.2815G>A	NP_570846.1:p.Asp939Asn
NM_130834.2:c.2866G>A	NP_570847.2:p.Asp956Asn
NM_130835.2:c.2869G>A	NP_570848.1:p.Asp957Asn
NM_130836.2:c.2923G>A	NP_570849.2:p.Asp975Asn
NM_130837.2:c.2977G>A , LRG_337t2:c.2977G>A	NP_570850.2:p.Asp993Asn
XM_011512863.1:c.2977G>A	XP_011511165.1:p.Asp993Asn
XM_011512864.1:c.2923G>A	XP_011511166.1:p.Asp975Asn
XM_011512865.1:c.2866G>A	XP_011511167.1:p.Asp956Asn
XM_011512866.1:c.2815G>A	XP_011511168.1:p.Asp939Asn
XM_011512867.1:c.2812G>A	XP_011511169.1:p.Asp938Asn
XM_011512868.1:c.2704G>A	XP_011511170.1:p.Asp902Asn
XR_924835.1:n.582+1646C>T
NM_001354663.1:c.2443G>A	NP_001341592.1:p.Asp815Asn
NM_001354664.1:c.2440G>A	NP_001341593.1:p.Asp814Asn
XR_001740158.2:n.3231G>A
XR_001740159.2:n.3066G>A
XR_001741072.1:n.600+1646C>T
XR_001741074.1:n.475+3534C>T
XR_924835.2:n.600+1646C>T
NM_001354663.2:c.2443G>A	NP_001341592.1:p.Asp815Asn
NM_001354664.2:c.2440G>A	NP_001341593.1:p.Asp814Asn
NM_130831.3:c.2704G>A	NP_570844.1:p.Asp902Asn
NM_130832.3:c.2758G>A	NP_570845.1:p.Asp920Asn
NM_130834.3:c.2866G>A	NP_570847.2:p.Asp956Asn
NM_130836.3:c.2923G>A	NP_570849.2:p.Asp975Asn
NM_015560.3:c.2812G>A	NP_056375.2:p.Asp938Asn
NM_130833.3:c.2815G>A	NP_570846.1:p.Asp939Asn
NM_130835.3:c.2869G>A	NP_570848.1:p.Asp957Asn
NM_130837.3:c.2977G>A MANE Select	NP_570850.2:p.Asp993Asn