Canonical Allele Identifier: CA377624150
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793251G>C , CM000672.2:g.93793251G>C GRCh38
NC_000010.10:g.95553008G>C , CM000672.1:g.95553008G>C GRCh37
NC_000010.9:g.95542998G>C NCBI36
NG_011832.1:g.40443G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.739G>C MANE Select ENSP00000360472.4:p.Asp247His
ENST00000485458.3:n.4715G>C
ENST00000635953.1:c.739G>C ENSP00000490058.1:p.Asp247His
ENST00000636155.1:c.739G>C ENSP00000490355.1:p.Asp247His
ENST00000636232.1:c.*525G>C ENSP00000490325.1:n.*525G>C
ENST00000636754.1:c.*581G>C ENSP00000489781.1:n.*581G>C
ENST00000636946.1:c.*908G>C ENSP00000490654.1:n.*908G>C
ENST00000637037.1:c.*329G>C ENSP00000490860.1:n.*329G>C
ENST00000637347.1:n.600G>C
ENST00000637611.1:c.*295G>C ENSP00000489682.1:n.*295G>C
ENST00000637689.1:c.-633G>C ENSP00000490496.1:n.-633G>C
ENST00000637925.1:c.*334G>C ENSP00000489763.1:n.*334G>C
ENST00000638049.1:c.*497G>C ENSP00000490597.1:n.*497G>C
ENST00000676175.1:n.2478G>C
ENST00000371413.4:c.739G>C ENSP00000360467.3:p.Asp247His
ENST00000371418.8:c.739G>C ENSP00000360472.4:p.Asp247His
ENST00000626307.1:n.4654G>C
ENST00000626946.1:n.409G>C
ENST00000627420.2:c.*448G>C ENSP00000487116.1:n.*448G>C
ENST00000629035.2:c.667G>C ENSP00000486908.1:p.Asp223His
ENST00000630047.2:c.595G>C ENSP00000485917.1:p.Asp199His
ENST00000630412.1:n.527G>C
ENST00000630487.2:c.*529G>C ENSP00000486859.1:n.*529G>C
NM_001308275.1:c.739G>C NP_001295204.1:p.Asp247His
NM_001308276.1:c.595G>C NP_001295205.1:p.Asp199His
NM_005097.2:c.739G>C NP_005088.1:p.Asp247His
NM_005097.3:c.739G>C NP_005088.1:p.Asp247His
NR_131777.1:n.1003G>C
XM_017016911.2:c.739G>C XP_016872400.1:p.Asp247His
XM_017016912.2:c.595G>C XP_016872401.1:p.Asp199His
NM_005097.4:c.739G>C MANE Select NP_005088.1:p.Asp247His
NM_001308275.2:c.739G>C NP_001295204.1:p.Asp247His
NM_001308276.2:c.595G>C NP_001295205.1:p.Asp199His
NR_131777.2:n.876G>C