Canonical Allele Identifier: CA10588486

Gene: LGI1

Linked Data

• ClinVar Variation Id: 265352
• ClinVar RCV Id: RCV000254786
• dbSNP Id: rs886039496
• COSMIC: COSM4016775
• MyVariant Identifiers: chr10:g.95556817C>T (hg19) ; chr10:g.93797060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93797060C>T , CM000672.2:g.93797060C>T	GRCh38
NC_000010.10:g.95556817C>T , CM000672.1:g.95556817C>T	GRCh37
NC_000010.9:g.95546807C>T	NCBI36
NG_011832.1:g.44252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.931C>T MANE Select	ENSP00000360472.4:p.Arg311Ter
ENST00000485458.3:n.4907C>T
ENST00000635804.1:n.365C>T
ENST00000635953.1:c.*353C>T	ENSP00000490058.1:n.*353C>T
ENST00000636155.1:c.838+3710C>T	ENSP00000490355.1:n.838+3710C>T
ENST00000636232.1:c.*717C>T	ENSP00000490325.1:n.*717C>T
ENST00000636754.1:c.*773C>T	ENSP00000489781.1:n.*773C>T
ENST00000636946.1:c.*1008-689C>T	ENSP00000490654.1:n.*1008-689C>T
ENST00000637037.1:c.*521C>T	ENSP00000490860.1:n.*521C>T
ENST00000637347.1:n.792C>T
ENST00000637611.1:c.*487C>T	ENSP00000489682.1:n.*487C>T
ENST00000637689.1:c.-441C>T	ENSP00000490496.1:n.-441C>T
ENST00000637925.1:c.*526C>T	ENSP00000489763.1:n.*526C>T
ENST00000638049.1:c.*689C>T	ENSP00000490597.1:n.*689C>T
ENST00000676175.1:n.2670C>T
ENST00000371413.4:c.839-689C>T	ENSP00000360467.3:n.839-689C>T
ENST00000371418.8:c.931C>T	ENSP00000360472.4:p.Arg311Ter
ENST00000626307.1:n.4846C>T
ENST00000627420.2:c.*640C>T	ENSP00000487116.1:n.*640C>T
ENST00000629035.2:c.859C>T	ENSP00000486908.1:p.Arg287Ter
ENST00000630047.2:c.787C>T	ENSP00000485917.1:p.Arg263Ter
NM_001308275.1:c.839-689C>T	NP_001295204.1:n.839-689C>T
NM_001308276.1:c.787C>T	NP_001295205.1:p.Arg263Ter
NM_005097.2:c.931C>T	NP_005088.1:p.Arg311Ter
NM_005097.3:c.931C>T	NP_005088.1:p.Arg311Ter
NR_131777.1:n.1195C>T
XM_017016912.2:c.695-689C>T	XP_016872401.1:n.695-689C>T
NM_005097.4:c.931C>T MANE Select	NP_005088.1:p.Arg311Ter
NM_001308275.2:c.839-689C>T	NP_001295204.1:n.839-689C>T
NM_001308276.2:c.787C>T	NP_001295205.1:p.Arg263Ter
NR_131777.2:n.1068C>T