Canonical Allele Identifier: CA376030760

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13136802A>C , CM000672.2:g.13136802A>C	GRCh38
NC_000010.10:g.13178802A>C , CM000672.1:g.13178802A>C	GRCh37
NC_000010.9:g.13218808A>C	NCBI36
NG_012876.1:g.41721A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001008212.2:c.1670A>C MANE Select	NP_001008213.1:p.Lys557Thr
ENST00000378747.8:c.1670A>C MANE Select	ENSP00000368021.3:p.Lys557Thr
NM_001008211.1:c.1670A>C	NP_001008212.1:p.Lys557Thr
NM_001008212.1:c.1670A>C	NP_001008213.1:p.Lys557Thr
NM_001008213.1:c.1670A>C	NP_001008214.1:p.Lys557Thr
NM_021980.4:c.1670A>C	NP_068815.2:p.Lys557Thr
ENST00000263036.9:c.1670A>C	ENSP00000263036.3:p.Lys557Thr
ENST00000378747.7:c.1670A>C	ENSP00000368021.3:p.Lys557Thr
ENST00000378748.7:c.1670A>C	ENSP00000368022.3:p.Lys557Thr
ENST00000378752.7:c.1652A>C	ENSP00000368027.3:p.Lys551Thr
ENST00000378757.6:c.1670A>C	ENSP00000368032.2:p.Lys557Thr
ENST00000378764.6:c.1652A>C	ENSP00000368040.1:p.Lys551Thr
ENST00000469025.1:n.526A>C
XM_005252336.2:c.1652A>C	XP_005252393.2:p.Lys551Thr
XM_005252337.3:c.1652A>C	XP_005252394.2:p.Lys551Thr
XM_005252338.2:c.1499A>C	XP_005252395.2:p.Lys500Thr