Canonical Allele Identifier: CA377623931
Gene: LGI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2001844
ClinVar RCV Id: RCV002832848

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793200C>G , CM000672.2:g.93793200C>G GRCh38
NC_000010.10:g.95552957C>G , CM000672.1:g.95552957C>G GRCh37
NC_000010.9:g.95542947C>G NCBI36
NG_011832.1:g.40392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.688C>G MANE Select ENSP00000360472.4:p.Gln230Glu
ENST00000485458.3:n.4664C>G
ENST00000635953.1:c.688C>G ENSP00000490058.1:p.Gln230Glu
ENST00000636155.1:c.688C>G ENSP00000490355.1:p.Gln230Glu
ENST00000636232.1:c.*474C>G ENSP00000490325.1:n.*474C>G
ENST00000636754.1:c.*530C>G ENSP00000489781.1:n.*530C>G
ENST00000636946.1:c.*857C>G ENSP00000490654.1:n.*857C>G
ENST00000637037.1:c.*278C>G ENSP00000490860.1:n.*278C>G
ENST00000637347.1:n.549C>G
ENST00000637611.1:c.*244C>G ENSP00000489682.1:n.*244C>G
ENST00000637689.1:c.-684C>G ENSP00000490496.1:n.-684C>G
ENST00000637925.1:c.*283C>G ENSP00000489763.1:n.*283C>G
ENST00000638049.1:c.*446C>G ENSP00000490597.1:n.*446C>G
ENST00000676175.1:n.2427C>G
ENST00000371413.4:c.688C>G ENSP00000360467.3:p.Gln230Glu
ENST00000371418.8:c.688C>G ENSP00000360472.4:p.Gln230Glu
ENST00000626307.1:n.4603C>G
ENST00000626946.1:n.358C>G
ENST00000627420.2:c.*397C>G ENSP00000487116.1:n.*397C>G
ENST00000629035.2:c.616C>G ENSP00000486908.1:p.Gln206Glu
ENST00000630047.2:c.544C>G ENSP00000485917.1:p.Gln182Glu
ENST00000630412.1:n.476C>G
ENST00000630487.2:c.*478C>G ENSP00000486859.1:n.*478C>G
NM_001308275.1:c.688C>G NP_001295204.1:p.Gln230Glu
NM_001308276.1:c.544C>G NP_001295205.1:p.Gln182Glu
NM_005097.2:c.688C>G NP_005088.1:p.Gln230Glu
NM_005097.3:c.688C>G NP_005088.1:p.Gln230Glu
NR_131777.1:n.952C>G
XM_017016911.2:c.688C>G XP_016872400.1:p.Gln230Glu
XM_017016912.2:c.544C>G XP_016872401.1:p.Gln182Glu
NM_005097.4:c.688C>G MANE Select NP_005088.1:p.Gln230Glu
NM_001308275.2:c.688C>G NP_001295204.1:p.Gln230Glu
NM_001308276.2:c.544C>G NP_001295205.1:p.Gln182Glu
NR_131777.2:n.825C>G