Canonical Allele Identifier: CA5611214

Gene: LGI1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93797140A>T , CM000672.2:g.93797140A>T	GRCh38
NC_000010.10:g.95556897A>T , CM000672.1:g.95556897A>T	GRCh37
NC_000010.9:g.95546887A>T	NCBI36
NG_011832.1:g.44332A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005097.4:c.1011A>T MANE Select	NP_005088.1:p.Thr337=
ENST00000371418.9:c.1011A>T MANE Select	ENSP00000360472.4:p.Thr337=
NM_001308275.1:c.839-609A>T	NP_001295204.1:n.839-609A>T
NM_001308275.2:c.839-609A>T	NP_001295204.1:n.839-609A>T
NM_001308276.1:c.867A>T	NP_001295205.1:p.Thr289=
NM_001308276.2:c.867A>T	NP_001295205.1:p.Thr289=
NM_005097.2:c.1011A>T	NP_005088.1:p.Thr337=
NM_005097.3:c.1011A>T	NP_005088.1:p.Thr337=
NR_131777.1:n.1275A>T
NR_131777.2:n.1148A>T
ENST00000371413.4:c.839-609A>T	ENSP00000360467.3:n.839-609A>T
ENST00000371418.8:c.1011A>T	ENSP00000360472.4:p.Thr337=
ENST00000485458.3:n.4987A>T
ENST00000626307.1:n.4926A>T
ENST00000627420.2:c.*720A>T	ENSP00000487116.1:n.*720A>T
ENST00000629035.2:c.939A>T	ENSP00000486908.1:p.Thr313=
ENST00000630047.2:c.867A>T	ENSP00000485917.1:p.Thr289=
ENST00000635804.1:n.445A>T
ENST00000635953.1:c.*433A>T	ENSP00000490058.1:n.*433A>T
ENST00000636155.1:c.838+3790A>T	ENSP00000490355.1:n.838+3790A>T
ENST00000636232.1:c.*797A>T	ENSP00000490325.1:n.*797A>T
ENST00000636754.1:c.*853A>T	ENSP00000489781.1:n.*853A>T
ENST00000636946.1:c.*1008-609A>T	ENSP00000490654.1:n.*1008-609A>T
ENST00000637037.1:c.*601A>T	ENSP00000490860.1:n.*601A>T
ENST00000637347.1:n.872A>T
ENST00000637611.1:c.*567A>T	ENSP00000489682.1:n.*567A>T
ENST00000637689.1:c.-361A>T	ENSP00000490496.1:n.-361A>T
ENST00000637925.1:c.*606A>T	ENSP00000489763.1:n.*606A>T
ENST00000638049.1:c.*769A>T	ENSP00000490597.1:n.*769A>T
ENST00000676175.1:n.2750A>T
XM_017016912.2:c.695-609A>T	XP_016872401.1:n.695-609A>T