Canonical Allele Identifier: CA10576004

Gene: OPA1

Linked Data

• ClinVar Variation Id: 225120
• ClinVar RCV Id: RCV000210742
• dbSNP Id: rs879255592
• MyVariant Identifiers: chr3:g.193364916G>A (hg19) ; chr3:g.193647127G>A (hg38)
• PubMed: PMID:21112924

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647127G>A , CM000665.2:g.193647127G>A	GRCh38
NC_000003.11:g.193364916G>A , CM000665.1:g.193364916G>A	GRCh37
NC_000003.10:g.194847610G>A	NCBI36
NG_011605.1:g.58984G>A , LRG_337:g.58984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1817G>A MANE Select	ENSP00000355324.2:p.Cys606Tyr
ENST00000361828.7:c.1652G>A	ENSP00000354429.3:p.Cys551Tyr
ENST00000361908.8:c.1763G>A	ENSP00000354681.3:p.Cys588Tyr
ENST00000392436.7:c.1652G>A	ENSP00000376231.3:p.Cys551Tyr
ENST00000392437.6:c.1706G>A	ENSP00000376232.2:p.Cys569Tyr
ENST00000642289.1:c.1591G>A
ENST00000642445.1:c.1652G>A	ENSP00000495535.1:p.Cys551Tyr
ENST00000642593.1:c.1652G>A	ENSP00000494273.1:p.Cys551Tyr
ENST00000643329.1:c.1334G>A	ENSP00000493673.1:p.Cys445Tyr
ENST00000643737.1:c.*1733G>A	ENSP00000494210.1:n.*1733G>A
ENST00000644595.1:c.1652G>A	ENSP00000494121.1:p.Cys551Tyr
ENST00000644629.1:c.1239G>A
ENST00000644841.1:c.*136G>A	ENSP00000493988.1:n.*136G>A
ENST00000644959.1:c.1621G>A
ENST00000645553.1:c.1667G>A	ENSP00000494725.1:p.Cys556Tyr
ENST00000646085.1:c.*1130G>A	ENSP00000494509.1:n.*1130G>A
ENST00000646277.1:c.*253G>A	ENSP00000495289.1:n.*253G>A
ENST00000646544.1:c.640G>A
ENST00000646699.1:c.1591G>A
ENST00000646793.1:c.1544G>A	ENSP00000494512.1:p.Cys515Tyr
ENST00000361150.6:c.1655G>A	ENSP00000354781.2:p.Cys552Tyr
ENST00000361510.6:c.1817G>A	ENSP00000355324.2:p.Cys606Tyr
ENST00000361715.6:c.1709G>A	ENSP00000355311.2:p.Cys570Tyr
ENST00000361828.6:c.1706G>A	ENSP00000354429.2:p.Cys569Tyr
ENST00000361908.7:c.1763G>A	ENSP00000354681.3:p.Cys588Tyr
ENST00000392438.7:c.1652G>A	ENSP00000376233.3:p.Cys551Tyr
ENST00000483516.1:n.150G>A
NM_015560.2:c.1652G>A , LRG_337t1:c.1652G>A	NP_056375.2:p.Cys551Tyr
NM_130831.2:c.1544G>A	NP_570844.1:p.Cys515Tyr
NM_130832.2:c.1598G>A	NP_570845.1:p.Cys533Tyr
NM_130833.2:c.1655G>A	NP_570846.1:p.Cys552Tyr
NM_130834.2:c.1706G>A	NP_570847.2:p.Cys569Tyr
NM_130835.2:c.1709G>A	NP_570848.1:p.Cys570Tyr
NM_130836.2:c.1763G>A	NP_570849.2:p.Cys588Tyr
NM_130837.2:c.1817G>A , LRG_337t2:c.1817G>A	NP_570850.2:p.Cys606Tyr
XM_011512863.1:c.1817G>A	XP_011511165.1:p.Cys606Tyr
XM_011512864.1:c.1763G>A	XP_011511166.1:p.Cys588Tyr
XM_011512865.1:c.1706G>A	XP_011511167.1:p.Cys569Tyr
XM_011512866.1:c.1655G>A	XP_011511168.1:p.Cys552Tyr
XM_011512867.1:c.1652G>A	XP_011511169.1:p.Cys551Tyr
XM_011512868.1:c.1544G>A	XP_011511170.1:p.Cys515Tyr
XM_011512869.1:c.1817G>A	XP_011511171.1:p.Cys606Tyr
NM_001354663.1:c.1283G>A	NP_001341592.1:p.Cys428Tyr
NM_001354664.1:c.1280G>A	NP_001341593.1:p.Cys427Tyr
XR_001740158.2:n.2046G>A
XR_001740159.2:n.1881G>A
NM_001354663.2:c.1283G>A	NP_001341592.1:p.Cys428Tyr
NM_001354664.2:c.1280G>A	NP_001341593.1:p.Cys427Tyr
NM_130831.3:c.1544G>A	NP_570844.1:p.Cys515Tyr
NM_130832.3:c.1598G>A	NP_570845.1:p.Cys533Tyr
NM_130834.3:c.1706G>A	NP_570847.2:p.Cys569Tyr
NM_130836.3:c.1763G>A	NP_570849.2:p.Cys588Tyr
NM_015560.3:c.1652G>A	NP_056375.2:p.Cys551Tyr
NM_130833.3:c.1655G>A	NP_570846.1:p.Cys552Tyr
NM_130835.3:c.1709G>A	NP_570848.1:p.Cys570Tyr
NM_130837.3:c.1817G>A MANE Select	NP_570850.2:p.Cys606Tyr