Canonical Allele Identifier: CA5611187

Gene: LGI1

Linked Data

• ClinVar Variation Id: 408593
• ClinVar RCV Id: RCV002230819 ; RCV002436427
• dbSNP Id: rs755068491
• ExAC: 10:95553106 A / G
• gnomAD v2: 10-95553106-A-G
• gnomAD v3: 10-93793349-A-G
• gnomAD v4: 10-93793349-A-G
• MyVariant Identifiers: chr10:g.95553106A>G (hg19) ; chr10:g.93793349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793349A>G , CM000672.2:g.93793349A>G	GRCh38
NC_000010.10:g.95553106A>G , CM000672.1:g.95553106A>G	GRCh37
NC_000010.9:g.95543096A>G	NCBI36
NG_011832.1:g.40541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.837A>G MANE Select	ENSP00000360472.4:p.Thr279=
ENST00000485458.3:n.4813A>G
ENST00000635953.1:c.837A>G	ENSP00000490058.1:p.Thr279=
ENST00000636155.1:c.837A>G	ENSP00000490355.1:p.Thr279=
ENST00000636232.1:c.*623A>G	ENSP00000490325.1:n.*623A>G
ENST00000636754.1:c.*679A>G	ENSP00000489781.1:n.*679A>G
ENST00000636946.1:c.*1006A>G	ENSP00000490654.1:n.*1006A>G
ENST00000637037.1:c.*427A>G	ENSP00000490860.1:n.*427A>G
ENST00000637347.1:n.698A>G
ENST00000637611.1:c.*393A>G	ENSP00000489682.1:n.*393A>G
ENST00000637689.1:c.-535A>G	ENSP00000490496.1:n.-535A>G
ENST00000637925.1:c.*432A>G	ENSP00000489763.1:n.*432A>G
ENST00000638049.1:c.*595A>G	ENSP00000490597.1:n.*595A>G
ENST00000676175.1:n.2576A>G
ENST00000371413.4:c.837A>G	ENSP00000360467.3:p.Thr279=
ENST00000371418.8:c.837A>G	ENSP00000360472.4:p.Thr279=
ENST00000626307.1:n.4752A>G
ENST00000626946.1:n.507A>G
ENST00000627420.2:c.*546A>G	ENSP00000487116.1:n.*546A>G
ENST00000629035.2:c.765A>G	ENSP00000486908.1:p.Thr255=
ENST00000630047.2:c.693A>G	ENSP00000485917.1:p.Thr231=
NM_001308275.1:c.837A>G	NP_001295204.1:p.Thr279=
NM_001308276.1:c.693A>G	NP_001295205.1:p.Thr231=
NM_005097.2:c.837A>G	NP_005088.1:p.Thr279=
NM_005097.3:c.837A>G	NP_005088.1:p.Thr279=
NR_131777.1:n.1101A>G
XM_017016911.2:c.837A>G	XP_016872400.1:p.Thr279=
XM_017016912.2:c.693A>G	XP_016872401.1:p.Thr231=
NM_005097.4:c.837A>G MANE Select	NP_005088.1:p.Thr279=
NM_001308275.2:c.837A>G	NP_001295204.1:p.Thr279=
NM_001308276.2:c.693A>G	NP_001295205.1:p.Thr231=
NR_131777.2:n.974A>G