Canonical Allele Identifier: CA16613191
Gene: LGI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 408592
ClinVar RCV Id: RCV002230371
dbSNP Id: rs1060502054

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793200C>T , CM000672.2:g.93793200C>T GRCh38
NC_000010.10:g.95552957C>T , CM000672.1:g.95552957C>T GRCh37
NC_000010.9:g.95542947C>T NCBI36
NG_011832.1:g.40392C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371418.9:c.688C>T MANE Select ENSP00000360472.4:p.Gln230Ter
ENST00000485458.3:n.4664C>T
ENST00000635953.1:c.688C>T ENSP00000490058.1:p.Gln230Ter
ENST00000636155.1:c.688C>T ENSP00000490355.1:p.Gln230Ter
ENST00000636232.1:c.*474C>T ENSP00000490325.1:n.*474C>T
ENST00000636754.1:c.*530C>T ENSP00000489781.1:n.*530C>T
ENST00000636946.1:c.*857C>T ENSP00000490654.1:n.*857C>T
ENST00000637037.1:c.*278C>T ENSP00000490860.1:n.*278C>T
ENST00000637347.1:n.549C>T
ENST00000637611.1:c.*244C>T ENSP00000489682.1:n.*244C>T
ENST00000637689.1:c.-684C>T ENSP00000490496.1:n.-684C>T
ENST00000637925.1:c.*283C>T ENSP00000489763.1:n.*283C>T
ENST00000638049.1:c.*446C>T ENSP00000490597.1:n.*446C>T
ENST00000676175.1:n.2427C>T
ENST00000371413.4:c.688C>T ENSP00000360467.3:p.Gln230Ter
ENST00000371418.8:c.688C>T ENSP00000360472.4:p.Gln230Ter
ENST00000626307.1:n.4603C>T
ENST00000626946.1:n.358C>T
ENST00000627420.2:c.*397C>T ENSP00000487116.1:n.*397C>T
ENST00000629035.2:c.616C>T ENSP00000486908.1:p.Gln206Ter
ENST00000630047.2:c.544C>T ENSP00000485917.1:p.Gln182Ter
ENST00000630412.1:n.476C>T
ENST00000630487.2:c.*478C>T ENSP00000486859.1:n.*478C>T
NM_001308275.1:c.688C>T NP_001295204.1:p.Gln230Ter
NM_001308276.1:c.544C>T NP_001295205.1:p.Gln182Ter
NM_005097.2:c.688C>T NP_005088.1:p.Gln230Ter
NM_005097.3:c.688C>T NP_005088.1:p.Gln230Ter
NR_131777.1:n.952C>T
XM_017016911.2:c.688C>T XP_016872400.1:p.Gln230Ter
XM_017016912.2:c.544C>T XP_016872401.1:p.Gln182Ter
NM_005097.4:c.688C>T MANE Select NP_005088.1:p.Gln230Ter
NM_001308275.2:c.688C>T NP_001295204.1:p.Gln230Ter
NM_001308276.2:c.544C>T NP_001295205.1:p.Gln182Ter
NR_131777.2:n.825C>T