Canonical Allele Identifier: CA2669102930

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2812046
• ClinVar RCV Id: RCV003685215
• gnomAD v4: 3-193638070-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638070G>A , CM000665.2:g.193638070G>A	GRCh38
NC_000003.11:g.193355859G>A , CM000665.1:g.193355859G>A	GRCh37
NC_000003.10:g.194838553G>A	NCBI36
NG_011605.1:g.49927G>A , LRG_337:g.49927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1149+5G>A MANE Select	ENSP00000355324.2:n.1149+5G>A
ENST00000361828.7:c.984+5G>A	ENSP00000354429.3:n.984+5G>A
ENST00000361908.8:c.1095+5G>A	ENSP00000354681.3:n.1095+5G>A
ENST00000392436.7:c.984+5G>A	ENSP00000376231.3:n.984+5G>A
ENST00000392437.6:c.1038+5G>A	ENSP00000376232.2:n.1038+5G>A
ENST00000642289.1:c.1079+5G>A
ENST00000642445.1:c.984+5G>A	ENSP00000495535.1:n.984+5G>A
ENST00000642593.1:c.984+5G>A	ENSP00000494273.1:n.984+5G>A
ENST00000643329.1:c.666+5G>A	ENSP00000493673.1:n.666+5G>A
ENST00000643737.1:c.*1065+5G>A	ENSP00000494210.1:n.*1065+5G>A
ENST00000644595.1:c.984+5G>A	ENSP00000494121.1:n.984+5G>A
ENST00000644629.1:c.644+5G>A
ENST00000644841.1:c.612+5G>A	ENSP00000493988.1:n.612+5G>A
ENST00000644959.1:c.953+5G>A
ENST00000645553.1:c.999+5G>A	ENSP00000494725.1:n.999+5G>A
ENST00000646085.1:c.*462+5G>A	ENSP00000494509.1:n.*462+5G>A
ENST00000646277.1:c.1149+5G>A	ENSP00000495289.1:n.1149+5G>A
ENST00000646544.1:c.47+5G>A
ENST00000646699.1:c.1079+5G>A
ENST00000646793.1:c.876+5G>A	ENSP00000494512.1:n.876+5G>A
ENST00000361150.6:c.987+5G>A	ENSP00000354781.2:n.987+5G>A
ENST00000361510.6:c.1149+5G>A	ENSP00000355324.2:n.1149+5G>A
ENST00000361715.6:c.1041+5G>A	ENSP00000355311.2:n.1041+5G>A
ENST00000361828.6:c.1038+5G>A	ENSP00000354429.2:n.1038+5G>A
ENST00000361908.7:c.1095+5G>A	ENSP00000354681.3:n.1095+5G>A
ENST00000392438.7:c.984+5G>A	ENSP00000376233.3:n.984+5G>A
ENST00000475899.1:n.180+5G>A
ENST00000497189.5:n.470+5G>A
NM_015560.2:c.984+5G>A , LRG_337t1:c.984+5G>A	NP_056375.2:n.984+5G>A
NM_130831.2:c.876+5G>A	NP_570844.1:n.876+5G>A
NM_130832.2:c.930+5G>A	NP_570845.1:n.930+5G>A
NM_130833.2:c.987+5G>A	NP_570846.1:n.987+5G>A
NM_130834.2:c.1038+5G>A	NP_570847.2:n.1038+5G>A
NM_130835.2:c.1041+5G>A	NP_570848.1:n.1041+5G>A
NM_130836.2:c.1095+5G>A	NP_570849.2:n.1095+5G>A
NM_130837.2:c.1149+5G>A , LRG_337t2:c.1149+5G>A	NP_570850.2:n.1149+5G>A
XM_011512863.1:c.1149+5G>A	XP_011511165.1:n.1149+5G>A
XM_011512864.1:c.1095+5G>A	XP_011511166.1:n.1095+5G>A
XM_011512865.1:c.1038+5G>A	XP_011511167.1:n.1038+5G>A
XM_011512866.1:c.987+5G>A	XP_011511168.1:n.987+5G>A
XM_011512867.1:c.984+5G>A	XP_011511169.1:n.984+5G>A
XM_011512868.1:c.876+5G>A	XP_011511170.1:n.876+5G>A
XM_011512869.1:c.1149+5G>A	XP_011511171.1:n.1149+5G>A
NM_001354663.1:c.615+5G>A	NP_001341592.1:n.615+5G>A
NM_001354664.1:c.612+5G>A	NP_001341593.1:n.612+5G>A
XR_001740158.2:n.1378+5G>A
XR_001740159.2:n.1213+5G>A
NM_001354663.2:c.615+5G>A	NP_001341592.1:n.615+5G>A
NM_001354664.2:c.612+5G>A	NP_001341593.1:n.612+5G>A
NM_130831.3:c.876+5G>A	NP_570844.1:n.876+5G>A
NM_130832.3:c.930+5G>A	NP_570845.1:n.930+5G>A
NM_130834.3:c.1038+5G>A	NP_570847.2:n.1038+5G>A
NM_130836.3:c.1095+5G>A	NP_570849.2:n.1095+5G>A
NM_015560.3:c.984+5G>A	NP_056375.2:n.984+5G>A
NM_130833.3:c.987+5G>A	NP_570846.1:n.987+5G>A
NM_130835.3:c.1041+5G>A	NP_570848.1:n.1041+5G>A
NM_130837.3:c.1149+5G>A MANE Select	NP_570850.2:n.1149+5G>A