Canonical Allele Identifier: CA377624081

Gene: LGI1

Linked Data

• ClinVar Variation Id: 1412976
• ClinVar RCV Id: RCV001910260
• dbSNP Id: rs2059951179
• gnomAD v4: 10-93793232-C-A
• MyVariant Identifiers: chr10:g.95552989C>A (hg19) ; chr10:g.93793232C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793232C>A , CM000672.2:g.93793232C>A	GRCh38
NC_000010.10:g.95552989C>A , CM000672.1:g.95552989C>A	GRCh37
NC_000010.9:g.95542979C>A	NCBI36
NG_011832.1:g.40424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.720C>A MANE Select	ENSP00000360472.4:p.Asp240Glu
ENST00000485458.3:n.4696C>A
ENST00000635953.1:c.720C>A	ENSP00000490058.1:p.Asp240Glu
ENST00000636155.1:c.720C>A	ENSP00000490355.1:p.Asp240Glu
ENST00000636232.1:c.*506C>A	ENSP00000490325.1:n.*506C>A
ENST00000636754.1:c.*562C>A	ENSP00000489781.1:n.*562C>A
ENST00000636946.1:c.*889C>A	ENSP00000490654.1:n.*889C>A
ENST00000637037.1:c.*310C>A	ENSP00000490860.1:n.*310C>A
ENST00000637347.1:n.581C>A
ENST00000637611.1:c.*276C>A	ENSP00000489682.1:n.*276C>A
ENST00000637689.1:c.-652C>A	ENSP00000490496.1:n.-652C>A
ENST00000637925.1:c.*315C>A	ENSP00000489763.1:n.*315C>A
ENST00000638049.1:c.*478C>A	ENSP00000490597.1:n.*478C>A
ENST00000676175.1:n.2459C>A
ENST00000371413.4:c.720C>A	ENSP00000360467.3:p.Asp240Glu
ENST00000371418.8:c.720C>A	ENSP00000360472.4:p.Asp240Glu
ENST00000626307.1:n.4635C>A
ENST00000626946.1:n.390C>A
ENST00000627420.2:c.*429C>A	ENSP00000487116.1:n.*429C>A
ENST00000629035.2:c.648C>A	ENSP00000486908.1:p.Asp216Glu
ENST00000630047.2:c.576C>A	ENSP00000485917.1:p.Asp192Glu
ENST00000630412.1:n.508C>A
ENST00000630487.2:c.*510C>A	ENSP00000486859.1:n.*510C>A
NM_001308275.1:c.720C>A	NP_001295204.1:p.Asp240Glu
NM_001308276.1:c.576C>A	NP_001295205.1:p.Asp192Glu
NM_005097.2:c.720C>A	NP_005088.1:p.Asp240Glu
NM_005097.3:c.720C>A	NP_005088.1:p.Asp240Glu
NR_131777.1:n.984C>A
XM_017016911.2:c.720C>A	XP_016872400.1:p.Asp240Glu
XM_017016912.2:c.576C>A	XP_016872401.1:p.Asp192Glu
NM_005097.4:c.720C>A MANE Select	NP_005088.1:p.Asp240Glu
NM_001308275.2:c.720C>A	NP_001295204.1:p.Asp240Glu
NM_001308276.2:c.576C>A	NP_001295205.1:p.Asp192Glu
NR_131777.2:n.857C>A