Canonical Allele Identifier: CA2669106086

Gene: OPA1

Linked Data

• gnomAD v4: 3-193647985-C-CAGAGGATATGTATTTTAACCACTTTAACCACTACATCTGGAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647988_193648032dup , CM000665.2:g.193647988_193648032dup	GRCh38
NC_000003.11:g.193365777_193365821dup , CM000665.1:g.193365777_193365821dup	GRCh37
NC_000003.10:g.194848471_194848515dup	NCBI36
NG_011605.1:g.59845_59889dup , LRG_337:g.59845_59889dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1871-82_1871-38dup MANE Select	ENSP00000355324.2:n.1871-82_1871-38dup
ENST00000361828.7:c.1706-82_1706-38dup	ENSP00000354429.3:n.1706-82_1706-38dup
ENST00000361908.8:c.1817-82_1817-38dup	ENSP00000354681.3:n.1817-82_1817-38dup
ENST00000392436.7:c.1706-82_1706-38dup	ENSP00000376231.3:n.1706-82_1706-38dup
ENST00000392437.6:c.1760-82_1760-38dup	ENSP00000376232.2:n.1760-82_1760-38dup
ENST00000642289.1:c.1645-82_1645-38dup
ENST00000642445.1:c.1706-82_1706-38dup	ENSP00000495535.1:n.1706-82_1706-38dup
ENST00000642593.1:c.1706-807_1706-763dup	ENSP00000494273.1:n.1706-807_1706-763dup
ENST00000643329.1:c.1388-82_1388-38dup	ENSP00000493673.1:n.1388-82_1388-38dup
ENST00000643737.1:c.*1787-82_*1787-38dup	ENSP00000494210.1:n.*1787-82_*1787-38dup
ENST00000644595.1:c.1706-82_1706-38dup	ENSP00000494121.1:n.1706-82_1706-38dup
ENST00000644629.1:c.1293-82_1293-38dup
ENST00000644841.1:c.*190-82_*190-38dup	ENSP00000493988.1:n.*190-82_*190-38dup
ENST00000644959.1:c.1675-82_1675-38dup
ENST00000645553.1:c.1721-82_1721-38dup	ENSP00000494725.1:n.1721-82_1721-38dup
ENST00000646085.1:c.*1184-82_*1184-38dup	ENSP00000494509.1:n.*1184-82_*1184-38dup
ENST00000646277.1:c.*307-82_*307-38dup	ENSP00000495289.1:n.*307-82_*307-38dup
ENST00000646544.1:c.694-82_694-38dup
ENST00000646699.1:c.1645-82_1645-38dup
ENST00000646793.1:c.1598-82_1598-38dup	ENSP00000494512.1:n.1598-82_1598-38dup
ENST00000361150.6:c.1709-82_1709-38dup	ENSP00000354781.2:n.1709-82_1709-38dup
ENST00000361510.6:c.1871-82_1871-38dup	ENSP00000355324.2:n.1871-82_1871-38dup
ENST00000361715.6:c.1763-82_1763-38dup	ENSP00000355311.2:n.1763-82_1763-38dup
ENST00000361828.6:c.1760-82_1760-38dup	ENSP00000354429.2:n.1760-82_1760-38dup
ENST00000361908.7:c.1817-82_1817-38dup	ENSP00000354681.3:n.1817-82_1817-38dup
ENST00000392438.7:c.1706-82_1706-38dup	ENSP00000376233.3:n.1706-82_1706-38dup
ENST00000483516.1:n.204-82_204-38dup
NM_015560.2:c.1706-82_1706-38dup , LRG_337t1:c.1706-82_1706-38dup	NP_056375.2:n.1706-82_1706-38dup
NM_130831.2:c.1598-82_1598-38dup	NP_570844.1:n.1598-82_1598-38dup
NM_130832.2:c.1652-82_1652-38dup	NP_570845.1:n.1652-82_1652-38dup
NM_130833.2:c.1709-82_1709-38dup	NP_570846.1:n.1709-82_1709-38dup
NM_130834.2:c.1760-82_1760-38dup	NP_570847.2:n.1760-82_1760-38dup
NM_130835.2:c.1763-82_1763-38dup	NP_570848.1:n.1763-82_1763-38dup
NM_130836.2:c.1817-82_1817-38dup	NP_570849.2:n.1817-82_1817-38dup
NM_130837.2:c.1871-82_1871-38dup , LRG_337t2:c.1871-82_1871-38dup	NP_570850.2:n.1871-82_1871-38dup
XM_011512863.1:c.1871-82_1871-38dup	XP_011511165.1:n.1871-82_1871-38dup
XM_011512864.1:c.1817-82_1817-38dup	XP_011511166.1:n.1817-82_1817-38dup
XM_011512865.1:c.1760-82_1760-38dup	XP_011511167.1:n.1760-82_1760-38dup
XM_011512866.1:c.1709-82_1709-38dup	XP_011511168.1:n.1709-82_1709-38dup
XM_011512867.1:c.1706-82_1706-38dup	XP_011511169.1:n.1706-82_1706-38dup
XM_011512868.1:c.1598-82_1598-38dup	XP_011511170.1:n.1598-82_1598-38dup
XM_011512869.1:c.1871-82_1871-38dup	XP_011511171.1:n.1871-82_1871-38dup
XR_924835.1:n.583-720_583-676dup
NM_001354663.1:c.1337-82_1337-38dup	NP_001341592.1:n.1337-82_1337-38dup
NM_001354664.1:c.1334-82_1334-38dup	NP_001341593.1:n.1334-82_1334-38dup
XR_001740158.2:n.2100-82_2100-38dup
XR_001740159.2:n.1935-82_1935-38dup
XR_001741074.1:n.476-720_476-676dup
XR_924835.2:n.601-720_601-676dup
NM_001354663.2:c.1337-82_1337-38dup	NP_001341592.1:n.1337-82_1337-38dup
NM_001354664.2:c.1334-82_1334-38dup	NP_001341593.1:n.1334-82_1334-38dup
NM_130831.3:c.1598-82_1598-38dup	NP_570844.1:n.1598-82_1598-38dup
NM_130832.3:c.1652-82_1652-38dup	NP_570845.1:n.1652-82_1652-38dup
NM_130834.3:c.1760-82_1760-38dup	NP_570847.2:n.1760-82_1760-38dup
NM_130836.3:c.1817-82_1817-38dup	NP_570849.2:n.1817-82_1817-38dup
NM_015560.3:c.1706-82_1706-38dup	NP_056375.2:n.1706-82_1706-38dup
NM_130833.3:c.1709-82_1709-38dup	NP_570846.1:n.1709-82_1709-38dup
NM_130835.3:c.1763-82_1763-38dup	NP_570848.1:n.1763-82_1763-38dup
NM_130837.3:c.1871-82_1871-38dup MANE Select	NP_570850.2:n.1871-82_1871-38dup