Canonical Allele Identifier: CA253480
Gene: LGI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5438
dbSNP Id: rs119488099

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93777592C>T , CM000672.2:g.93777592C>T GRCh38
NC_000010.10:g.95537349C>T , CM000672.1:g.95537349C>T GRCh37
NC_000010.9:g.95527339C>T NCBI36
NG_011832.1:g.24784C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371418.9:c.406C>T MANE Select ENSP00000360472.4:p.Arg136Trp
ENST00000485458.3:n.4382C>T
ENST00000635953.1:c.406C>T ENSP00000490058.1:p.Arg136Trp
ENST00000636155.1:c.406C>T ENSP00000490355.1:p.Arg136Trp
ENST00000636232.1:c.*192C>T ENSP00000490325.1:n.*192C>T
ENST00000636754.1:c.*196C>T ENSP00000489781.1:n.*196C>T
ENST00000636946.1:c.*575C>T ENSP00000490654.1:n.*575C>T
ENST00000637037.1:c.406C>T ENSP00000490860.1:p.Arg136Trp
ENST00000637347.1:n.267C>T
ENST00000637611.1:c.406C>T ENSP00000489682.1:p.Arg136Trp
ENST00000637689.1:c.-966C>T ENSP00000490496.1:n.-966C>T
ENST00000637925.1:c.406C>T ENSP00000489763.1:p.Arg136Trp
ENST00000638049.1:c.*164C>T ENSP00000490597.1:n.*164C>T
ENST00000371413.4:c.406C>T ENSP00000360467.3:p.Arg136Trp
ENST00000371418.8:c.406C>T ENSP00000360472.4:p.Arg136Trp
ENST00000464250.1:n.36C>T
ENST00000485458.2:n.321C>T
ENST00000627420.2:c.*78-12507C>T ENSP00000487116.1:n.*78-12507C>T
ENST00000629035.2:c.334C>T ENSP00000486908.1:p.Arg112Trp
ENST00000630047.2:c.288-12507C>T ENSP00000485917.1:n.288-12507C>T
ENST00000630184.2:c.406C>T ENSP00000486607.1:p.Arg136Trp
ENST00000630487.2:c.*196C>T ENSP00000486859.1:n.*196C>T
NM_001308275.1:c.406C>T NP_001295204.1:p.Arg136Trp
NM_001308276.1:c.288-12507C>T NP_001295205.1:n.288-12507C>T
NM_005097.2:c.406C>T NP_005088.1:p.Arg136Trp
NM_005097.3:c.406C>T NP_005088.1:p.Arg136Trp
NR_131777.1:n.633-12507C>T
XR_946213.1:n.381-567G>A
XR_946214.1:n.381-567G>A
XM_017016911.2:c.406C>T XP_016872400.1:p.Arg136Trp
XM_017016912.2:c.288-12507C>T XP_016872401.1:n.288-12507C>T
XR_002957096.1:n.1558-567G>A
NM_005097.4:c.406C>T MANE Select NP_005088.1:p.Arg136Trp
NM_001308275.2:c.406C>T NP_001295204.1:p.Arg136Trp
NM_001308276.2:c.288-12507C>T NP_001295205.1:n.288-12507C>T
NR_131777.2:n.506-12507C>T