Canonical Allele Identifier: CA377631954
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93758767G>C , CM000672.2:g.93758767G>C GRCh38
NC_000010.10:g.95518524G>C , CM000672.1:g.95518524G>C GRCh37
NC_000010.9:g.95508514G>C NCBI36
NG_011832.1:g.5959G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.223G>C MANE Select ENSP00000360472.4:p.Val75Leu
ENST00000635953.1:c.223G>C ENSP00000490058.1:p.Val75Leu
ENST00000636140.1:n.8G>C
ENST00000636155.1:c.223G>C ENSP00000490355.1:p.Val75Leu
ENST00000636232.1:c.*9G>C ENSP00000490325.1:n.*9G>C
ENST00000636754.1:c.*13G>C ENSP00000489781.1:n.*13G>C
ENST00000636946.1:c.223G>C ENSP00000490654.1:p.Val75Leu
ENST00000637037.1:c.223G>C ENSP00000490860.1:p.Val75Leu
ENST00000637347.1:n.148+79G>C
ENST00000637611.1:c.223G>C ENSP00000489682.1:p.Val75Leu
ENST00000637689.1:c.-1149G>C ENSP00000490496.1:n.-1149G>C
ENST00000637925.1:c.223G>C ENSP00000489763.1:p.Val75Leu
ENST00000638049.1:c.140G>C ENSP00000490597.1:p.Cys47Ser
ENST00000371413.4:c.223G>C ENSP00000360467.3:p.Val75Leu
ENST00000371418.8:c.223G>C ENSP00000360472.4:p.Val75Leu
ENST00000478763.2:c.223G>C ENSP00000486517.1:p.Val75Leu
ENST00000627420.2:c.*13G>C ENSP00000487116.1:n.*13G>C
ENST00000627699.1:c.*13G>C ENSP00000485868.1:n.*13G>C
ENST00000629035.2:c.215+408G>C ENSP00000486908.1:n.215+408G>C
ENST00000630047.2:c.223G>C ENSP00000485917.1:p.Val75Leu
ENST00000630184.2:c.223G>C ENSP00000486607.1:p.Val75Leu
ENST00000630487.2:c.*13G>C ENSP00000486859.1:n.*13G>C
NM_001308275.1:c.223G>C NP_001295204.1:p.Val75Leu
NM_001308276.1:c.223G>C NP_001295205.1:p.Val75Leu
NM_005097.2:c.223G>C NP_005088.1:p.Val75Leu
NM_005097.3:c.223G>C NP_005088.1:p.Val75Leu
NR_131777.1:n.568G>C
XM_017016911.2:c.223G>C XP_016872400.1:p.Val75Leu
XM_017016912.2:c.223G>C XP_016872401.1:p.Val75Leu
NM_005097.4:c.223G>C MANE Select NP_005088.1:p.Val75Leu
NM_001308275.2:c.223G>C NP_001295204.1:p.Val75Leu
NM_001308276.2:c.223G>C NP_001295205.1:p.Val75Leu
NR_131777.2:n.441G>C