Canonical Allele Identifier: CA377627247

Gene: LGI1

Linked Data

• MyVariant Identifiers: chr10:g.95556928G>C (hg19) ; chr10:g.93797171G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.1042G>C MANE Select	ENSP00000360472.4:p.Val348Leu
ENST00000485458.3:n.5018G>C
ENST00000635804.1:n.476G>C
ENST00000635953.1:c.*464G>C	ENSP00000490058.1:n.*464G>C
ENST00000636155.1:c.838+3821G>C	ENSP00000490355.1:n.838+3821G>C
ENST00000636232.1:c.*828G>C	ENSP00000490325.1:n.*828G>C
ENST00000636754.1:c.*884G>C	ENSP00000489781.1:n.*884G>C
ENST00000636946.1:c.*1008-578G>C	ENSP00000490654.1:n.*1008-578G>C
ENST00000637037.1:c.*632G>C	ENSP00000490860.1:n.*632G>C
ENST00000637347.1:n.903G>C
ENST00000637611.1:c.*598G>C	ENSP00000489682.1:n.*598G>C
ENST00000637689.1:c.-330G>C	ENSP00000490496.1:n.-330G>C
ENST00000637925.1:c.*637G>C	ENSP00000489763.1:n.*637G>C
ENST00000638049.1:c.*800G>C	ENSP00000490597.1:n.*800G>C
ENST00000676175.1:n.2781G>C
ENST00000371413.4:c.839-578G>C	ENSP00000360467.3:n.839-578G>C
ENST00000371418.8:c.1042G>C	ENSP00000360472.4:p.Val348Leu
ENST00000626307.1:n.4957G>C
ENST00000627420.2:c.*751G>C	ENSP00000487116.1:n.*751G>C
ENST00000629035.2:c.970G>C	ENSP00000486908.1:p.Val324Leu
ENST00000630047.2:c.898G>C	ENSP00000485917.1:p.Val300Leu
NM_001308275.1:c.839-578G>C	NP_001295204.1:n.839-578G>C
NM_001308276.1:c.898G>C	NP_001295205.1:p.Val300Leu
NM_005097.2:c.1042G>C	NP_005088.1:p.Val348Leu
NM_005097.3:c.1042G>C	NP_005088.1:p.Val348Leu
NR_131777.1:n.1306G>C
XM_017016912.2:c.695-578G>C	XP_016872401.1:n.695-578G>C
NM_005097.4:c.1042G>C MANE Select	NP_005088.1:p.Val348Leu
NM_001308275.2:c.839-578G>C	NP_001295204.1:n.839-578G>C
NM_001308276.2:c.898G>C	NP_001295205.1:p.Val300Leu
NR_131777.2:n.1179G>C