Canonical Allele Identifier: CA203266919

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13122384G>C , CM000672.2:g.13122384G>C	GRCh38
NC_000010.10:g.13164384G>C , CM000672.1:g.13164384G>C	GRCh37
NC_000010.9:g.13204390G>C	NCBI36
NG_012876.1:g.27303G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001008212.2:c.780-1G>C MANE Select	NP_001008213.1:n.780-1G>C
ENST00000378747.8:c.780-1G>C MANE Select	ENSP00000368021.3:n.780-1G>C
NM_001008211.1:c.780-1G>C	NP_001008212.1:n.780-1G>C
NM_001008212.1:c.780-1G>C	NP_001008213.1:n.780-1G>C
NM_001008213.1:c.780-1G>C	NP_001008214.1:n.780-1G>C
NM_021980.4:c.780-1G>C	NP_068815.2:n.780-1G>C
ENST00000263036.9:c.780-1G>C	ENSP00000263036.3:n.780-1G>C
ENST00000378747.7:c.780-1G>C	ENSP00000368021.3:n.780-1G>C
ENST00000378748.7:c.780-1G>C	ENSP00000368022.3:n.780-1G>C
ENST00000378752.7:c.762-1G>C	ENSP00000368027.3:n.762-1G>C
ENST00000378757.6:c.780-1G>C	ENSP00000368032.2:n.780-1G>C
ENST00000378764.6:c.762-1G>C	ENSP00000368040.1:n.762-1G>C
ENST00000424614.1:c.227-1G>C
XM_005252336.2:c.762-1G>C	XP_005252393.2:n.762-1G>C
XM_005252337.3:c.762-1G>C	XP_005252394.2:n.762-1G>C
XM_005252338.2:c.609-1G>C	XP_005252395.2:n.609-1G>C