Canonical Allele Identifier: CA377627240

Gene: LGI1

Linked Data

• ClinVar Variation Id: 653734
• ClinVar RCV Id: RCV002234352
• dbSNP Id: rs1589775794
• gnomAD v3: 10-93797169-T-C
• gnomAD v4: 10-93797169-T-C
• MyVariant Identifiers: chr10:g.95556926T>C (hg19) ; chr10:g.93797169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93797169T>C , CM000672.2:g.93797169T>C	GRCh38
NC_000010.10:g.95556926T>C , CM000672.1:g.95556926T>C	GRCh37
NC_000010.9:g.95546916T>C	NCBI36
NG_011832.1:g.44361T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.1040T>C MANE Select	ENSP00000360472.4:p.Val347Ala
ENST00000485458.3:n.5016T>C
ENST00000635804.1:n.474T>C
ENST00000635953.1:c.*462T>C	ENSP00000490058.1:n.*462T>C
ENST00000636155.1:c.838+3819T>C	ENSP00000490355.1:n.838+3819T>C
ENST00000636232.1:c.*826T>C	ENSP00000490325.1:n.*826T>C
ENST00000636754.1:c.*882T>C	ENSP00000489781.1:n.*882T>C
ENST00000636946.1:c.*1008-580T>C	ENSP00000490654.1:n.*1008-580T>C
ENST00000637037.1:c.*630T>C	ENSP00000490860.1:n.*630T>C
ENST00000637347.1:n.901T>C
ENST00000637611.1:c.*596T>C	ENSP00000489682.1:n.*596T>C
ENST00000637689.1:c.-332T>C	ENSP00000490496.1:n.-332T>C
ENST00000637925.1:c.*635T>C	ENSP00000489763.1:n.*635T>C
ENST00000638049.1:c.*798T>C	ENSP00000490597.1:n.*798T>C
ENST00000676175.1:n.2779T>C
ENST00000371413.4:c.839-580T>C	ENSP00000360467.3:n.839-580T>C
ENST00000371418.8:c.1040T>C	ENSP00000360472.4:p.Val347Ala
ENST00000626307.1:n.4955T>C
ENST00000627420.2:c.*749T>C	ENSP00000487116.1:n.*749T>C
ENST00000629035.2:c.968T>C	ENSP00000486908.1:p.Val323Ala
ENST00000630047.2:c.896T>C	ENSP00000485917.1:p.Val299Ala
NM_001308275.1:c.839-580T>C	NP_001295204.1:n.839-580T>C
NM_001308276.1:c.896T>C	NP_001295205.1:p.Val299Ala
NM_005097.2:c.1040T>C	NP_005088.1:p.Val347Ala
NM_005097.3:c.1040T>C	NP_005088.1:p.Val347Ala
NR_131777.1:n.1304T>C
XM_017016912.2:c.695-580T>C	XP_016872401.1:n.695-580T>C
NM_005097.4:c.1040T>C MANE Select	NP_005088.1:p.Val347Ala
NM_001308275.2:c.839-580T>C	NP_001295204.1:n.839-580T>C
NM_001308276.2:c.896T>C	NP_001295205.1:p.Val299Ala
NR_131777.2:n.1177T>C