Canonical Allele Identifier: CA377627251

Gene: LGI1

Linked Data

• dbSNP Id: rs1396395687
• gnomAD v2: 10-95556928-G-T
• gnomAD v4: 10-93797171-G-T
• COSMIC: COSM6234699
• MyVariant Identifiers: chr10:g.95556928G>T (hg19) ; chr10:g.93797171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93797171G>T , CM000672.2:g.93797171G>T	GRCh38
NC_000010.10:g.95556928G>T , CM000672.1:g.95556928G>T	GRCh37
NC_000010.9:g.95546918G>T	NCBI36
NG_011832.1:g.44363G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.1042G>T MANE Select	ENSP00000360472.4:p.Val348Phe
ENST00000485458.3:n.5018G>T
ENST00000635804.1:n.476G>T
ENST00000635953.1:c.*464G>T	ENSP00000490058.1:n.*464G>T
ENST00000636155.1:c.838+3821G>T	ENSP00000490355.1:n.838+3821G>T
ENST00000636232.1:c.*828G>T	ENSP00000490325.1:n.*828G>T
ENST00000636754.1:c.*884G>T	ENSP00000489781.1:n.*884G>T
ENST00000636946.1:c.*1008-578G>T	ENSP00000490654.1:n.*1008-578G>T
ENST00000637037.1:c.*632G>T	ENSP00000490860.1:n.*632G>T
ENST00000637347.1:n.903G>T
ENST00000637611.1:c.*598G>T	ENSP00000489682.1:n.*598G>T
ENST00000637689.1:c.-330G>T	ENSP00000490496.1:n.-330G>T
ENST00000637925.1:c.*637G>T	ENSP00000489763.1:n.*637G>T
ENST00000638049.1:c.*800G>T	ENSP00000490597.1:n.*800G>T
ENST00000676175.1:n.2781G>T
ENST00000371413.4:c.839-578G>T	ENSP00000360467.3:n.839-578G>T
ENST00000371418.8:c.1042G>T	ENSP00000360472.4:p.Val348Phe
ENST00000626307.1:n.4957G>T
ENST00000627420.2:c.*751G>T	ENSP00000487116.1:n.*751G>T
ENST00000629035.2:c.970G>T	ENSP00000486908.1:p.Val324Phe
ENST00000630047.2:c.898G>T	ENSP00000485917.1:p.Val300Phe
NM_001308275.1:c.839-578G>T	NP_001295204.1:n.839-578G>T
NM_001308276.1:c.898G>T	NP_001295205.1:p.Val300Phe
NM_005097.2:c.1042G>T	NP_005088.1:p.Val348Phe
NM_005097.3:c.1042G>T	NP_005088.1:p.Val348Phe
NR_131777.1:n.1306G>T
XM_017016912.2:c.695-578G>T	XP_016872401.1:n.695-578G>T
NM_005097.4:c.1042G>T MANE Select	NP_005088.1:p.Val348Phe
NM_001308275.2:c.839-578G>T	NP_001295204.1:n.839-578G>T
NM_001308276.2:c.898G>T	NP_001295205.1:p.Val300Phe
NR_131777.2:n.1179G>T