Canonical Allele Identifier: CA377624251
Gene: LGI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793274G>C , CM000672.2:g.93793274G>C GRCh38
NC_000010.10:g.95553031G>C , CM000672.1:g.95553031G>C GRCh37
NC_000010.9:g.95543021G>C NCBI36
NG_011832.1:g.40466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371418.9:c.762G>C MANE Select ENSP00000360472.4:p.Gln254His
ENST00000485458.3:n.4738G>C
ENST00000635953.1:c.762G>C ENSP00000490058.1:p.Gln254His
ENST00000636155.1:c.762G>C ENSP00000490355.1:p.Gln254His
ENST00000636232.1:c.*548G>C ENSP00000490325.1:n.*548G>C
ENST00000636754.1:c.*604G>C ENSP00000489781.1:n.*604G>C
ENST00000636946.1:c.*931G>C ENSP00000490654.1:n.*931G>C
ENST00000637037.1:c.*352G>C ENSP00000490860.1:n.*352G>C
ENST00000637347.1:n.623G>C
ENST00000637611.1:c.*318G>C ENSP00000489682.1:n.*318G>C
ENST00000637689.1:c.-610G>C ENSP00000490496.1:n.-610G>C
ENST00000637925.1:c.*357G>C ENSP00000489763.1:n.*357G>C
ENST00000638049.1:c.*520G>C ENSP00000490597.1:n.*520G>C
ENST00000676175.1:n.2501G>C
ENST00000371413.4:c.762G>C ENSP00000360467.3:p.Gln254His
ENST00000371418.8:c.762G>C ENSP00000360472.4:p.Gln254His
ENST00000626307.1:n.4677G>C
ENST00000626946.1:n.432G>C
ENST00000627420.2:c.*471G>C ENSP00000487116.1:n.*471G>C
ENST00000629035.2:c.690G>C ENSP00000486908.1:p.Gln230His
ENST00000630047.2:c.618G>C ENSP00000485917.1:p.Gln206His
ENST00000630487.2:c.*552G>C ENSP00000486859.1:n.*552G>C
NM_001308275.1:c.762G>C NP_001295204.1:p.Gln254His
NM_001308276.1:c.618G>C NP_001295205.1:p.Gln206His
NM_005097.2:c.762G>C NP_005088.1:p.Gln254His
NM_005097.3:c.762G>C NP_005088.1:p.Gln254His
NR_131777.1:n.1026G>C
XM_017016911.2:c.762G>C XP_016872400.1:p.Gln254His
XM_017016912.2:c.618G>C XP_016872401.1:p.Gln206His
NM_005097.4:c.762G>C MANE Select NP_005088.1:p.Gln254His
NM_001308275.2:c.762G>C NP_001295204.1:p.Gln254His
NM_001308276.2:c.618G>C NP_001295205.1:p.Gln206His
NR_131777.2:n.899G>C