Canonical Allele Identifier: CA5410571

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13110478T>C , CM000672.2:g.13110478T>C	GRCh38
NC_000010.10:g.13152478T>C , CM000672.1:g.13152478T>C	GRCh37
NC_000010.9:g.13192484T>C	NCBI36
NG_012876.1:g.15397T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001008212.2:c.369+2T>C MANE Select	NP_001008213.1:n.369+2T>C
ENST00000378747.8:c.369+2T>C MANE Select	ENSP00000368021.3:n.369+2T>C
NM_001008211.1:c.369+2T>C	NP_001008212.1:n.369+2T>C
NM_001008212.1:c.369+2T>C	NP_001008213.1:n.369+2T>C
NM_001008213.1:c.369+2T>C	NP_001008214.1:n.369+2T>C
NM_021980.4:c.369+2T>C	NP_068815.2:n.369+2T>C
ENST00000263036.9:c.369+2T>C	ENSP00000263036.3:n.369+2T>C
ENST00000378747.7:c.369+2T>C	ENSP00000368021.3:n.369+2T>C
ENST00000378748.7:c.369+2T>C	ENSP00000368022.3:n.369+2T>C
ENST00000378752.7:c.369+2T>C	ENSP00000368027.3:n.369+2T>C
ENST00000378757.6:c.369+2T>C	ENSP00000368032.2:n.369+2T>C
ENST00000378764.6:c.369+2T>C	ENSP00000368040.1:n.369+2T>C
ENST00000430081.5:c.*274+2T>C	ENSP00000414747.2:n.*274+2T>C
ENST00000482140.5:c.166+1190T>C	ENSP00000484961.1:n.166+1190T>C
XM_005252336.2:c.369+2T>C	XP_005252393.2:n.369+2T>C
XM_005252337.3:c.369+2T>C	XP_005252394.2:n.369+2T>C
XM_005252338.2:c.198+2T>C	XP_005252395.2:n.198+2T>C