Canonical Allele Identifier: CA5410959

Gene: OPTN

Linked Data

• dbSNP Id: rs142212518
• ExAC: 10:13174023 A / G
• gnomAD v2: 10-13174023-A-G
• gnomAD v3: 10-13132023-A-G
• gnomAD v4: 10-13132023-A-G
• MyVariant Identifiers: chr10:g.13174023A>G (hg19) ; chr10:g.13132023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13132023A>G , CM000672.2:g.13132023A>G	GRCh38
NC_000010.10:g.13174023A>G , CM000672.1:g.13174023A>G	GRCh37
NC_000010.9:g.13214029A>G	NCBI36
NG_012876.1:g.36942A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378747.8:c.1402-44A>G MANE Select	ENSP00000368021.3:n.1402-44A>G
ENST00000263036.9:c.1402-44A>G	ENSP00000263036.3:n.1402-44A>G
ENST00000378747.7:c.1402-44A>G	ENSP00000368021.3:n.1402-44A>G
ENST00000378748.7:c.1402-44A>G	ENSP00000368022.3:n.1402-44A>G
ENST00000378752.7:c.1384-44A>G	ENSP00000368027.3:n.1384-44A>G
ENST00000378757.6:c.1402-44A>G	ENSP00000368032.2:n.1402-44A>G
ENST00000378764.6:c.1384-44A>G	ENSP00000368040.1:n.1384-44A>G
ENST00000469025.1:n.258-44A>G
NM_001008211.1:c.1402-44A>G	NP_001008212.1:n.1402-44A>G
NM_001008212.1:c.1402-44A>G	NP_001008213.1:n.1402-44A>G
NM_001008213.1:c.1402-44A>G	NP_001008214.1:n.1402-44A>G
NM_021980.4:c.1402-44A>G	NP_068815.2:n.1402-44A>G
XM_005252336.2:c.1384-44A>G	XP_005252393.2:n.1384-44A>G
XM_005252337.3:c.1384-44A>G	XP_005252394.2:n.1384-44A>G
XM_005252338.2:c.1231-44A>G	XP_005252395.2:n.1231-44A>G
NM_001008212.2:c.1402-44A>G MANE Select	NP_001008213.1:n.1402-44A>G