Canonical Allele Identifier: CA5410879

Gene: OPTN

Linked Data

• dbSNP Id: rs779097118
• ExAC: 10:13167897 T / A
• gnomAD v2: 10-13167897-T-A
• gnomAD v4: 10-13125897-T-A
• MyVariant Identifiers: chr10:g.13167897T>A (hg19) ; chr10:g.13125897T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13125897T>A , CM000672.2:g.13125897T>A	GRCh38
NC_000010.10:g.13167897T>A , CM000672.1:g.13167897T>A	GRCh37
NC_000010.9:g.13207903T>A	NCBI36
NG_012876.1:g.30816T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1149-49T>A MANE Select	ENSP00000368021.3:n.1149-49T>A
ENST00000263036.9:c.1149-49T>A	ENSP00000263036.3:n.1149-49T>A
ENST00000378747.7:c.1149-49T>A	ENSP00000368021.3:n.1149-49T>A
ENST00000378748.7:c.1149-49T>A	ENSP00000368022.3:n.1149-49T>A
ENST00000378752.7:c.1131-49T>A	ENSP00000368027.3:n.1131-49T>A
ENST00000378757.6:c.1149-49T>A	ENSP00000368032.2:n.1149-49T>A
ENST00000378764.6:c.1131-49T>A	ENSP00000368040.1:n.1131-49T>A
NM_001008211.1:c.1149-49T>A	NP_001008212.1:n.1149-49T>A
NM_001008212.1:c.1149-49T>A	NP_001008213.1:n.1149-49T>A
NM_001008213.1:c.1149-49T>A	NP_001008214.1:n.1149-49T>A
NM_021980.4:c.1149-49T>A	NP_068815.2:n.1149-49T>A
XM_005252336.2:c.1131-49T>A	XP_005252393.2:n.1131-49T>A
XM_005252337.3:c.1131-49T>A	XP_005252394.2:n.1131-49T>A
XM_005252338.2:c.978-49T>A	XP_005252395.2:n.978-49T>A
NM_001008212.2:c.1149-49T>A MANE Select	NP_001008213.1:n.1149-49T>A