Canonical Allele Identifier: CA5411046

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13136765C>T , CM000672.2:g.13136765C>T	GRCh38
NC_000010.10:g.13178765C>T , CM000672.1:g.13178765C>T	GRCh37
NC_000010.9:g.13218771C>T	NCBI36
NG_012876.1:g.41684C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001008212.2:c.1633C>T MANE Select	NP_001008213.1:p.Arg545Trp
ENST00000378747.8:c.1633C>T MANE Select	ENSP00000368021.3:p.Arg545Trp
NM_001008211.1:c.1633C>T	NP_001008212.1:p.Arg545Trp
NM_001008212.1:c.1633C>T	NP_001008213.1:p.Arg545Trp
NM_001008213.1:c.1633C>T	NP_001008214.1:p.Arg545Trp
NM_021980.4:c.1633C>T	NP_068815.2:p.Arg545Trp
ENST00000263036.9:c.1633C>T	ENSP00000263036.3:p.Arg545Trp
ENST00000378747.7:c.1633C>T	ENSP00000368021.3:p.Arg545Trp
ENST00000378748.7:c.1633C>T	ENSP00000368022.3:p.Arg545Trp
ENST00000378752.7:c.1615C>T	ENSP00000368027.3:p.Arg539Trp
ENST00000378757.6:c.1633C>T	ENSP00000368032.2:p.Arg545Trp
ENST00000378764.6:c.1615C>T	ENSP00000368040.1:p.Arg539Trp
ENST00000469025.1:n.489C>T
XM_005252336.2:c.1615C>T	XP_005252393.2:p.Arg539Trp
XM_005252337.3:c.1615C>T	XP_005252394.2:p.Arg539Trp
XM_005252338.2:c.1462C>T	XP_005252395.2:p.Arg488Trp