Canonical Allele Identifier: CA377627878
Gene: LGI1 HGNC NCBI

Linked Data

COSMIC: COSM686054

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93797263G>T , CM000672.2:g.93797263G>T GRCh38
NC_000010.10:g.95557020G>T , CM000672.1:g.95557020G>T GRCh37
NC_000010.9:g.95547010G>T NCBI36
NG_011832.1:g.44455G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371418.9:c.1134G>T MANE Select ENSP00000360472.4:p.Arg378Ser
ENST00000485458.3:n.5110G>T
ENST00000635804.1:n.568G>T
ENST00000635953.1:c.*556G>T ENSP00000490058.1:n.*556G>T
ENST00000636155.1:c.838+3913G>T ENSP00000490355.1:n.838+3913G>T
ENST00000636232.1:c.*920G>T ENSP00000490325.1:n.*920G>T
ENST00000636754.1:c.*976G>T ENSP00000489781.1:n.*976G>T
ENST00000636946.1:c.*1008-486G>T ENSP00000490654.1:n.*1008-486G>T
ENST00000637037.1:c.*724G>T ENSP00000490860.1:n.*724G>T
ENST00000637347.1:n.995G>T
ENST00000637611.1:c.*690G>T ENSP00000489682.1:n.*690G>T
ENST00000637689.1:c.-238G>T ENSP00000490496.1:n.-238G>T
ENST00000637925.1:c.*729G>T ENSP00000489763.1:n.*729G>T
ENST00000638049.1:c.*892G>T ENSP00000490597.1:n.*892G>T
ENST00000676175.1:n.2873G>T
ENST00000371413.4:c.839-486G>T ENSP00000360467.3:n.839-486G>T
ENST00000371418.8:c.1134G>T ENSP00000360472.4:p.Arg378Ser
ENST00000626307.1:n.5049G>T
ENST00000627420.2:c.*843G>T ENSP00000487116.1:n.*843G>T
ENST00000629035.2:c.1062G>T ENSP00000486908.1:p.Arg354Ser
ENST00000630047.2:c.990G>T ENSP00000485917.1:p.Arg330Ser
NM_001308275.1:c.839-486G>T NP_001295204.1:n.839-486G>T
NM_001308276.1:c.990G>T NP_001295205.1:p.Arg330Ser
NM_005097.2:c.1134G>T NP_005088.1:p.Arg378Ser
NM_005097.3:c.1134G>T NP_005088.1:p.Arg378Ser
NR_131777.1:n.1398G>T
XM_017016912.2:c.695-486G>T XP_016872401.1:n.695-486G>T
NM_005097.4:c.1134G>T MANE Select NP_005088.1:p.Arg378Ser
NM_001308275.2:c.839-486G>T NP_001295204.1:n.839-486G>T
NM_001308276.2:c.990G>T NP_001295205.1:p.Arg330Ser
NR_131777.2:n.1271G>T