Canonical Allele Identifier: CA376028381

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13118910A>T , CM000672.2:g.13118910A>T	GRCh38
NC_000010.10:g.13160910A>T , CM000672.1:g.13160910A>T	GRCh37
NC_000010.9:g.13200916A>T	NCBI36
NG_012876.1:g.23829A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001008212.2:c.649A>T MANE Select	NP_001008213.1:p.Arg217Ter
ENST00000378747.8:c.649A>T MANE Select	ENSP00000368021.3:p.Arg217Ter
NM_001008211.1:c.649A>T	NP_001008212.1:p.Arg217Ter
NM_001008212.1:c.649A>T	NP_001008213.1:p.Arg217Ter
NM_001008213.1:c.649A>T	NP_001008214.1:p.Arg217Ter
NM_021980.4:c.649A>T	NP_068815.2:p.Arg217Ter
ENST00000263036.9:c.649A>T	ENSP00000263036.3:p.Arg217Ter
ENST00000378747.7:c.649A>T	ENSP00000368021.3:p.Arg217Ter
ENST00000378748.7:c.649A>T	ENSP00000368022.3:p.Arg217Ter
ENST00000378752.7:c.631A>T	ENSP00000368027.3:p.Arg211Ter
ENST00000378757.6:c.649A>T	ENSP00000368032.2:p.Arg217Ter
ENST00000378764.6:c.631A>T	ENSP00000368040.1:p.Arg211Ter
ENST00000424614.1:c.96A>T
ENST00000482140.5:c.*269A>T	ENSP00000484961.1:n.*269A>T
XM_005252336.2:c.631A>T	XP_005252393.2:p.Arg211Ter
XM_005252337.3:c.631A>T	XP_005252394.2:p.Arg211Ter
XM_005252338.2:c.478A>T	XP_005252395.2:p.Arg160Ter