Canonical Allele Identifier: CA377624169
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793255A>T , CM000672.2:g.93793255A>T GRCh38
NC_000010.10:g.95553012A>T , CM000672.1:g.95553012A>T GRCh37
NC_000010.9:g.95543002A>T NCBI36
NG_011832.1:g.40447A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.743A>T MANE Select ENSP00000360472.4:p.Glu248Val
ENST00000485458.3:n.4719A>T
ENST00000635953.1:c.743A>T ENSP00000490058.1:p.Glu248Val
ENST00000636155.1:c.743A>T ENSP00000490355.1:p.Glu248Val
ENST00000636232.1:c.*529A>T ENSP00000490325.1:n.*529A>T
ENST00000636754.1:c.*585A>T ENSP00000489781.1:n.*585A>T
ENST00000636946.1:c.*912A>T ENSP00000490654.1:n.*912A>T
ENST00000637037.1:c.*333A>T ENSP00000490860.1:n.*333A>T
ENST00000637347.1:n.604A>T
ENST00000637611.1:c.*299A>T ENSP00000489682.1:n.*299A>T
ENST00000637689.1:c.-629A>T ENSP00000490496.1:n.-629A>T
ENST00000637925.1:c.*338A>T ENSP00000489763.1:n.*338A>T
ENST00000638049.1:c.*501A>T ENSP00000490597.1:n.*501A>T
ENST00000676175.1:n.2482A>T
ENST00000371413.4:c.743A>T ENSP00000360467.3:p.Glu248Val
ENST00000371418.8:c.743A>T ENSP00000360472.4:p.Glu248Val
ENST00000626307.1:n.4658A>T
ENST00000626946.1:n.413A>T
ENST00000627420.2:c.*452A>T ENSP00000487116.1:n.*452A>T
ENST00000629035.2:c.671A>T ENSP00000486908.1:p.Glu224Val
ENST00000630047.2:c.599A>T ENSP00000485917.1:p.Glu200Val
ENST00000630412.1:n.531A>T
ENST00000630487.2:c.*533A>T ENSP00000486859.1:n.*533A>T
NM_001308275.1:c.743A>T NP_001295204.1:p.Glu248Val
NM_001308276.1:c.599A>T NP_001295205.1:p.Glu200Val
NM_005097.2:c.743A>T NP_005088.1:p.Glu248Val
NM_005097.3:c.743A>T NP_005088.1:p.Glu248Val
NR_131777.1:n.1007A>T
XM_017016911.2:c.743A>T XP_016872400.1:p.Glu248Val
XM_017016912.2:c.599A>T XP_016872401.1:p.Glu200Val
NM_005097.4:c.743A>T MANE Select NP_005088.1:p.Glu248Val
NM_001308275.2:c.743A>T NP_001295204.1:p.Glu248Val
NM_001308276.2:c.599A>T NP_001295205.1:p.Glu200Val
NR_131777.2:n.880A>T