Canonical Allele Identifier: CA254103
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 7101
ClinVar RCV Id: RCV000007519
dbSNP Id: rs267606928

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13125989C>T , CM000672.2:g.13125989C>T GRCh38
NC_000010.10:g.13167989C>T , CM000672.1:g.13167989C>T GRCh37
NC_000010.9:g.13207995C>T NCBI36
NG_012876.1:g.30908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378747.8:c.1192C>T MANE Select ENSP00000368021.3:p.Gln398Ter
ENST00000263036.9:c.1192C>T ENSP00000263036.3:p.Gln398Ter
ENST00000378747.7:c.1192C>T ENSP00000368021.3:p.Gln398Ter
ENST00000378748.7:c.1192C>T ENSP00000368022.3:p.Gln398Ter
ENST00000378752.7:c.1174C>T ENSP00000368027.3:p.Gln392Ter
ENST00000378757.6:c.1192C>T ENSP00000368032.2:p.Gln398Ter
ENST00000378764.6:c.1174C>T ENSP00000368040.1:p.Gln392Ter
NM_001008211.1:c.1192C>T NP_001008212.1:p.Gln398Ter
NM_001008212.1:c.1192C>T NP_001008213.1:p.Gln398Ter
NM_001008213.1:c.1192C>T NP_001008214.1:p.Gln398Ter
NM_021980.4:c.1192C>T NP_068815.2:p.Gln398Ter
XM_005252336.2:c.1174C>T XP_005252393.2:p.Gln392Ter
XM_005252337.3:c.1174C>T XP_005252394.2:p.Gln392Ter
XM_005252338.2:c.1021C>T XP_005252395.2:p.Gln341Ter
NM_001008212.2:c.1192C>T MANE Select NP_001008213.1:p.Gln398Ter