Canonical Allele Identifier: CA377624552
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793330G>T , CM000672.2:g.93793330G>T GRCh38
NC_000010.10:g.95553087G>T , CM000672.1:g.95553087G>T GRCh37
NC_000010.9:g.95543077G>T NCBI36
NG_011832.1:g.40522G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.818G>T MANE Select ENSP00000360472.4:p.Arg273Leu
ENST00000485458.3:n.4794G>T
ENST00000635953.1:c.818G>T ENSP00000490058.1:p.Arg273Leu
ENST00000636155.1:c.818G>T ENSP00000490355.1:p.Arg273Leu
ENST00000636232.1:c.*604G>T ENSP00000490325.1:n.*604G>T
ENST00000636754.1:c.*660G>T ENSP00000489781.1:n.*660G>T
ENST00000636946.1:c.*987G>T ENSP00000490654.1:n.*987G>T
ENST00000637037.1:c.*408G>T ENSP00000490860.1:n.*408G>T
ENST00000637347.1:n.679G>T
ENST00000637611.1:c.*374G>T ENSP00000489682.1:n.*374G>T
ENST00000637689.1:c.-554G>T ENSP00000490496.1:n.-554G>T
ENST00000637925.1:c.*413G>T ENSP00000489763.1:n.*413G>T
ENST00000638049.1:c.*576G>T ENSP00000490597.1:n.*576G>T
ENST00000676175.1:n.2557G>T
ENST00000371413.4:c.818G>T ENSP00000360467.3:p.Arg273Leu
ENST00000371418.8:c.818G>T ENSP00000360472.4:p.Arg273Leu
ENST00000626307.1:n.4733G>T
ENST00000626946.1:n.488G>T
ENST00000627420.2:c.*527G>T ENSP00000487116.1:n.*527G>T
ENST00000629035.2:c.746G>T ENSP00000486908.1:p.Arg249Leu
ENST00000630047.2:c.674G>T ENSP00000485917.1:p.Arg225Leu
ENST00000630487.2:c.*608G>T ENSP00000486859.1:n.*608G>T
NM_001308275.1:c.818G>T NP_001295204.1:p.Arg273Leu
NM_001308276.1:c.674G>T NP_001295205.1:p.Arg225Leu
NM_005097.2:c.818G>T NP_005088.1:p.Arg273Leu
NM_005097.3:c.818G>T NP_005088.1:p.Arg273Leu
NR_131777.1:n.1082G>T
XM_017016911.2:c.818G>T XP_016872400.1:p.Arg273Leu
XM_017016912.2:c.674G>T XP_016872401.1:p.Arg225Leu
NM_005097.4:c.818G>T MANE Select NP_005088.1:p.Arg273Leu
NM_001308275.2:c.818G>T NP_001295204.1:p.Arg273Leu
NM_001308276.2:c.674G>T NP_001295205.1:p.Arg225Leu
NR_131777.2:n.955G>T