Canonical Allele Identifier: CA377623939
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793202A>C , CM000672.2:g.93793202A>C GRCh38
NC_000010.10:g.95552959A>C , CM000672.1:g.95552959A>C GRCh37
NC_000010.9:g.95542949A>C NCBI36
NG_011832.1:g.40394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.690A>C MANE Select ENSP00000360472.4:p.Gln230His
ENST00000485458.3:n.4666A>C
ENST00000635953.1:c.690A>C ENSP00000490058.1:p.Gln230His
ENST00000636155.1:c.690A>C ENSP00000490355.1:p.Gln230His
ENST00000636232.1:c.*476A>C ENSP00000490325.1:n.*476A>C
ENST00000636754.1:c.*532A>C ENSP00000489781.1:n.*532A>C
ENST00000636946.1:c.*859A>C ENSP00000490654.1:n.*859A>C
ENST00000637037.1:c.*280A>C ENSP00000490860.1:n.*280A>C
ENST00000637347.1:n.551A>C
ENST00000637611.1:c.*246A>C ENSP00000489682.1:n.*246A>C
ENST00000637689.1:c.-682A>C ENSP00000490496.1:n.-682A>C
ENST00000637925.1:c.*285A>C ENSP00000489763.1:n.*285A>C
ENST00000638049.1:c.*448A>C ENSP00000490597.1:n.*448A>C
ENST00000676175.1:n.2429A>C
ENST00000371413.4:c.690A>C ENSP00000360467.3:p.Gln230His
ENST00000371418.8:c.690A>C ENSP00000360472.4:p.Gln230His
ENST00000626307.1:n.4605A>C
ENST00000626946.1:n.360A>C
ENST00000627420.2:c.*399A>C ENSP00000487116.1:n.*399A>C
ENST00000629035.2:c.618A>C ENSP00000486908.1:p.Gln206His
ENST00000630047.2:c.546A>C ENSP00000485917.1:p.Gln182His
ENST00000630412.1:n.478A>C
ENST00000630487.2:c.*480A>C ENSP00000486859.1:n.*480A>C
NM_001308275.1:c.690A>C NP_001295204.1:p.Gln230His
NM_001308276.1:c.546A>C NP_001295205.1:p.Gln182His
NM_005097.2:c.690A>C NP_005088.1:p.Gln230His
NM_005097.3:c.690A>C NP_005088.1:p.Gln230His
NR_131777.1:n.954A>C
XM_017016911.2:c.690A>C XP_016872400.1:p.Gln230His
XM_017016912.2:c.546A>C XP_016872401.1:p.Gln182His
NM_005097.4:c.690A>C MANE Select NP_005088.1:p.Gln230His
NM_001308275.2:c.690A>C NP_001295204.1:p.Gln230His
NM_001308276.2:c.546A>C NP_001295205.1:p.Gln182His
NR_131777.2:n.827A>C