Canonical Allele Identifier: CA5410547

Gene: OPTN

Linked Data

• ClinVar Variation Id: 299209
• ClinVar RCV Id: RCV000328367 ; RCV000382888 ; RCV001859779
• dbSNP Id: rs756622651
• ExAC: 10:13152354 C / T
• gnomAD v2: 10-13152354-C-T
• gnomAD v3: 10-13110354-C-T
• gnomAD v4: 10-13110354-C-T
• MyVariant Identifiers: chr10:g.13152354C>T (hg19) ; chr10:g.13110354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13110354C>T , CM000672.2:g.13110354C>T	GRCh38
NC_000010.10:g.13152354C>T , CM000672.1:g.13152354C>T	GRCh37
NC_000010.9:g.13192360C>T	NCBI36
NG_012876.1:g.15273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.247C>T MANE Select	ENSP00000368021.3:p.Arg83Cys
ENST00000263036.9:c.247C>T	ENSP00000263036.3:p.Arg83Cys
ENST00000378747.7:c.247C>T	ENSP00000368021.3:p.Arg83Cys
ENST00000378748.7:c.247C>T	ENSP00000368022.3:p.Arg83Cys
ENST00000378752.7:c.247C>T	ENSP00000368027.3:p.Arg83Cys
ENST00000378757.6:c.247C>T	ENSP00000368032.2:p.Arg83Cys
ENST00000378764.6:c.247C>T	ENSP00000368040.1:p.Arg83Cys
ENST00000430081.5:c.*152C>T	ENSP00000414747.2:n.*152C>T
ENST00000482140.5:c.166+1066C>T	ENSP00000484961.1:n.166+1066C>T
NM_001008211.1:c.247C>T	NP_001008212.1:p.Arg83Cys
NM_001008212.1:c.247C>T	NP_001008213.1:p.Arg83Cys
NM_001008213.1:c.247C>T	NP_001008214.1:p.Arg83Cys
NM_021980.4:c.247C>T	NP_068815.2:p.Arg83Cys
XM_005252336.2:c.247C>T	XP_005252393.2:p.Arg83Cys
XM_005252337.3:c.247C>T	XP_005252394.2:p.Arg83Cys
XM_005252338.2:c.76C>T	XP_005252395.2:p.Arg26Cys
NM_001008212.2:c.247C>T MANE Select	NP_001008213.1:p.Arg83Cys