Canonical Allele Identifier: CA377623905
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793194A>C , CM000672.2:g.93793194A>C GRCh38
NC_000010.10:g.95552951A>C , CM000672.1:g.95552951A>C GRCh37
NC_000010.9:g.95542941A>C NCBI36
NG_011832.1:g.40386A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.682A>C MANE Select ENSP00000360472.4:p.Lys228Gln
ENST00000485458.3:n.4658A>C
ENST00000635953.1:c.682A>C ENSP00000490058.1:p.Lys228Gln
ENST00000636155.1:c.682A>C ENSP00000490355.1:p.Lys228Gln
ENST00000636232.1:c.*468A>C ENSP00000490325.1:n.*468A>C
ENST00000636754.1:c.*524A>C ENSP00000489781.1:n.*524A>C
ENST00000636946.1:c.*851A>C ENSP00000490654.1:n.*851A>C
ENST00000637037.1:c.*272A>C ENSP00000490860.1:n.*272A>C
ENST00000637347.1:n.543A>C
ENST00000637611.1:c.*238A>C ENSP00000489682.1:n.*238A>C
ENST00000637689.1:c.-690A>C ENSP00000490496.1:n.-690A>C
ENST00000637925.1:c.*277A>C ENSP00000489763.1:n.*277A>C
ENST00000638049.1:c.*440A>C ENSP00000490597.1:n.*440A>C
ENST00000676175.1:n.2421A>C
ENST00000371413.4:c.682A>C ENSP00000360467.3:p.Lys228Gln
ENST00000371418.8:c.682A>C ENSP00000360472.4:p.Lys228Gln
ENST00000626307.1:n.4597A>C
ENST00000626946.1:n.352A>C
ENST00000627420.2:c.*391A>C ENSP00000487116.1:n.*391A>C
ENST00000629035.2:c.610A>C ENSP00000486908.1:p.Lys204Gln
ENST00000630047.2:c.538A>C ENSP00000485917.1:p.Lys180Gln
ENST00000630412.1:n.470A>C
ENST00000630487.2:c.*472A>C ENSP00000486859.1:n.*472A>C
NM_001308275.1:c.682A>C NP_001295204.1:p.Lys228Gln
NM_001308276.1:c.538A>C NP_001295205.1:p.Lys180Gln
NM_005097.2:c.682A>C NP_005088.1:p.Lys228Gln
NM_005097.3:c.682A>C NP_005088.1:p.Lys228Gln
NR_131777.1:n.946A>C
XM_017016911.2:c.682A>C XP_016872400.1:p.Lys228Gln
XM_017016912.2:c.538A>C XP_016872401.1:p.Lys180Gln
NM_005097.4:c.682A>C MANE Select NP_005088.1:p.Lys228Gln
NM_001308275.2:c.682A>C NP_001295204.1:p.Lys228Gln
NM_001308276.2:c.538A>C NP_001295205.1:p.Lys180Gln
NR_131777.2:n.819A>C