Canonical Allele Identifier: CA377624057
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793227A>C , CM000672.2:g.93793227A>C GRCh38
NC_000010.10:g.95552984A>C , CM000672.1:g.95552984A>C GRCh37
NC_000010.9:g.95542974A>C NCBI36
NG_011832.1:g.40419A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.715A>C MANE Select ENSP00000360472.4:p.Ile239Leu
ENST00000485458.3:n.4691A>C
ENST00000635953.1:c.715A>C ENSP00000490058.1:p.Ile239Leu
ENST00000636155.1:c.715A>C ENSP00000490355.1:p.Ile239Leu
ENST00000636232.1:c.*501A>C ENSP00000490325.1:n.*501A>C
ENST00000636754.1:c.*557A>C ENSP00000489781.1:n.*557A>C
ENST00000636946.1:c.*884A>C ENSP00000490654.1:n.*884A>C
ENST00000637037.1:c.*305A>C ENSP00000490860.1:n.*305A>C
ENST00000637347.1:n.576A>C
ENST00000637611.1:c.*271A>C ENSP00000489682.1:n.*271A>C
ENST00000637689.1:c.-657A>C ENSP00000490496.1:n.-657A>C
ENST00000637925.1:c.*310A>C ENSP00000489763.1:n.*310A>C
ENST00000638049.1:c.*473A>C ENSP00000490597.1:n.*473A>C
ENST00000676175.1:n.2454A>C
ENST00000371413.4:c.715A>C ENSP00000360467.3:p.Ile239Leu
ENST00000371418.8:c.715A>C ENSP00000360472.4:p.Ile239Leu
ENST00000626307.1:n.4630A>C
ENST00000626946.1:n.385A>C
ENST00000627420.2:c.*424A>C ENSP00000487116.1:n.*424A>C
ENST00000629035.2:c.643A>C ENSP00000486908.1:p.Ile215Leu
ENST00000630047.2:c.571A>C ENSP00000485917.1:p.Ile191Leu
ENST00000630412.1:n.503A>C
ENST00000630487.2:c.*505A>C ENSP00000486859.1:n.*505A>C
NM_001308275.1:c.715A>C NP_001295204.1:p.Ile239Leu
NM_001308276.1:c.571A>C NP_001295205.1:p.Ile191Leu
NM_005097.2:c.715A>C NP_005088.1:p.Ile239Leu
NM_005097.3:c.715A>C NP_005088.1:p.Ile239Leu
NR_131777.1:n.979A>C
XM_017016911.2:c.715A>C XP_016872400.1:p.Ile239Leu
XM_017016912.2:c.571A>C XP_016872401.1:p.Ile191Leu
NM_005097.4:c.715A>C MANE Select NP_005088.1:p.Ile239Leu
NM_001308275.2:c.715A>C NP_001295204.1:p.Ile239Leu
NM_001308276.2:c.571A>C NP_001295205.1:p.Ile191Leu
NR_131777.2:n.852A>C