Canonical Allele Identifier: CA2759316

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1460933
• ClinVar RCV Id: RCV001983195
• dbSNP Id: rs190223702
• ExAC: 3:193360767 G / A
• gnomAD v2: 3-193360767-G-A
• gnomAD v3: 3-193642978-G-A
• gnomAD v4: 3-193642978-G-A
• MyVariant Identifiers: chr3:g.193360767G>A (hg19) ; chr3:g.193642978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642978G>A , CM000665.2:g.193642978G>A	GRCh38
NC_000003.11:g.193360767G>A , CM000665.1:g.193360767G>A	GRCh37
NC_000003.10:g.194843461G>A	NCBI36
NG_011605.1:g.54835G>A , LRG_337:g.54835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1234G>A MANE Select	ENSP00000355324.2:p.Ala412Thr
ENST00000361828.7:c.1069G>A	ENSP00000354429.3:p.Ala357Thr
ENST00000361908.8:c.1180G>A	ENSP00000354681.3:p.Ala394Thr
ENST00000392436.7:c.1069G>A	ENSP00000376231.3:p.Ala357Thr
ENST00000392437.6:c.1123G>A	ENSP00000376232.2:p.Ala375Thr
ENST00000642289.1:c.1080-395G>A
ENST00000642445.1:c.1069G>A	ENSP00000495535.1:p.Ala357Thr
ENST00000642593.1:c.1069G>A	ENSP00000494273.1:p.Ala357Thr
ENST00000643329.1:c.751G>A	ENSP00000493673.1:p.Ala251Thr
ENST00000643737.1:c.*1150G>A	ENSP00000494210.1:n.*1150G>A
ENST00000644595.1:c.1069G>A	ENSP00000494121.1:p.Ala357Thr
ENST00000644629.1:c.729G>A
ENST00000644841.1:c.697G>A	ENSP00000493988.1:p.Ala233Thr
ENST00000644959.1:c.1038G>A
ENST00000645553.1:c.1084G>A	ENSP00000494725.1:p.Ala362Thr
ENST00000646085.1:c.*547G>A	ENSP00000494509.1:n.*547G>A
ENST00000646277.1:c.1234G>A	ENSP00000495289.1:p.Ala412Thr
ENST00000646544.1:c.128+133G>A
ENST00000646699.1:c.1080-395G>A
ENST00000646793.1:c.961G>A	ENSP00000494512.1:p.Ala321Thr
ENST00000361150.6:c.1072G>A	ENSP00000354781.2:p.Ala358Thr
ENST00000361510.6:c.1234G>A	ENSP00000355324.2:p.Ala412Thr
ENST00000361715.6:c.1126G>A	ENSP00000355311.2:p.Ala376Thr
ENST00000361828.6:c.1123G>A	ENSP00000354429.2:p.Ala375Thr
ENST00000361908.7:c.1180G>A	ENSP00000354681.3:p.Ala394Thr
ENST00000392438.7:c.1069G>A	ENSP00000376233.3:p.Ala357Thr
ENST00000475899.1:n.265G>A
ENST00000497189.5:n.555G>A
NM_015560.2:c.1069G>A , LRG_337t1:c.1069G>A	NP_056375.2:p.Ala357Thr
NM_130831.2:c.961G>A	NP_570844.1:p.Ala321Thr
NM_130832.2:c.1015G>A	NP_570845.1:p.Ala339Thr
NM_130833.2:c.1072G>A	NP_570846.1:p.Ala358Thr
NM_130834.2:c.1123G>A	NP_570847.2:p.Ala375Thr
NM_130835.2:c.1126G>A	NP_570848.1:p.Ala376Thr
NM_130836.2:c.1180G>A	NP_570849.2:p.Ala394Thr
NM_130837.2:c.1234G>A , LRG_337t2:c.1234G>A	NP_570850.2:p.Ala412Thr
XM_011512863.1:c.1234G>A	XP_011511165.1:p.Ala412Thr
XM_011512864.1:c.1180G>A	XP_011511166.1:p.Ala394Thr
XM_011512865.1:c.1123G>A	XP_011511167.1:p.Ala375Thr
XM_011512866.1:c.1072G>A	XP_011511168.1:p.Ala358Thr
XM_011512867.1:c.1069G>A	XP_011511169.1:p.Ala357Thr
XM_011512868.1:c.961G>A	XP_011511170.1:p.Ala321Thr
XM_011512869.1:c.1234G>A	XP_011511171.1:p.Ala412Thr
NM_001354663.1:c.700G>A	NP_001341592.1:p.Ala234Thr
NM_001354664.1:c.697G>A	NP_001341593.1:p.Ala233Thr
XR_001740158.2:n.1463G>A
XR_001740159.2:n.1298G>A
NM_001354663.2:c.700G>A	NP_001341592.1:p.Ala234Thr
NM_001354664.2:c.697G>A	NP_001341593.1:p.Ala233Thr
NM_130831.3:c.961G>A	NP_570844.1:p.Ala321Thr
NM_130832.3:c.1015G>A	NP_570845.1:p.Ala339Thr
NM_130834.3:c.1123G>A	NP_570847.2:p.Ala375Thr
NM_130836.3:c.1180G>A	NP_570849.2:p.Ala394Thr
NM_015560.3:c.1069G>A	NP_056375.2:p.Ala357Thr
NM_130833.3:c.1072G>A	NP_570846.1:p.Ala358Thr
NM_130835.3:c.1126G>A	NP_570848.1:p.Ala376Thr
NM_130837.3:c.1234G>A MANE Select	NP_570850.2:p.Ala412Thr