Canonical Allele Identifier: CA5410962

Gene: OPTN

Linked Data

• dbSNP Id: rs369825137
• ExAC: 10:13174027 A / T
• gnomAD v2: 10-13174027-A-T
• gnomAD v4: 10-13132027-A-T
• MyVariant Identifiers: chr10:g.13174027A>T (hg19) ; chr10:g.13132027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13132027A>T , CM000672.2:g.13132027A>T	GRCh38
NC_000010.10:g.13174027A>T , CM000672.1:g.13174027A>T	GRCh37
NC_000010.9:g.13214033A>T	NCBI36
NG_012876.1:g.36946A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378747.8:c.1402-40A>T MANE Select	ENSP00000368021.3:n.1402-40A>T
ENST00000263036.9:c.1402-40A>T	ENSP00000263036.3:n.1402-40A>T
ENST00000378747.7:c.1402-40A>T	ENSP00000368021.3:n.1402-40A>T
ENST00000378748.7:c.1402-40A>T	ENSP00000368022.3:n.1402-40A>T
ENST00000378752.7:c.1384-40A>T	ENSP00000368027.3:n.1384-40A>T
ENST00000378757.6:c.1402-40A>T	ENSP00000368032.2:n.1402-40A>T
ENST00000378764.6:c.1384-40A>T	ENSP00000368040.1:n.1384-40A>T
ENST00000469025.1:n.258-40A>T
NM_001008211.1:c.1402-40A>T	NP_001008212.1:n.1402-40A>T
NM_001008212.1:c.1402-40A>T	NP_001008213.1:n.1402-40A>T
NM_001008213.1:c.1402-40A>T	NP_001008214.1:n.1402-40A>T
NM_021980.4:c.1402-40A>T	NP_068815.2:n.1402-40A>T
XM_005252336.2:c.1384-40A>T	XP_005252393.2:n.1384-40A>T
XM_005252337.3:c.1384-40A>T	XP_005252394.2:n.1384-40A>T
XM_005252338.2:c.1231-40A>T	XP_005252395.2:n.1231-40A>T
NM_001008212.2:c.1402-40A>T MANE Select	NP_001008213.1:n.1402-40A>T