Canonical Allele Identifier: CA347373

Gene: LGI1

Linked Data

• ClinVar Variation Id: 208476
• ClinVar RCV Id: RCV000193106
• dbSNP Id: rs797044996
• MyVariant Identifiers: chr10:g.95518025T>G (hg19) ; chr10:g.93758268T>G (hg38)
• PubMed: PMID:15079010 ; PMID:15079011 ; PMID:20301709

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93758268T>G , CM000672.2:g.93758268T>G	GRCh38
NC_000010.10:g.95518025T>G , CM000672.1:g.95518025T>G	GRCh37
NC_000010.9:g.95508015T>G	NCBI36
NG_011832.1:g.5460T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.124T>G MANE Select	ENSP00000360472.4:p.Cys42Gly
ENST00000635953.1:c.124T>G	ENSP00000490058.1:p.Cys42Gly
ENST00000636155.1:c.124T>G	ENSP00000490355.1:p.Cys42Gly
ENST00000636232.1:c.124T>G	ENSP00000490325.1:p.Cys42Gly
ENST00000636754.1:c.124T>G	ENSP00000489781.1:p.Cys42Gly
ENST00000636946.1:c.124T>G	ENSP00000490654.1:p.Cys42Gly
ENST00000637037.1:c.124T>G	ENSP00000490860.1:p.Cys42Gly
ENST00000637611.1:c.124T>G	ENSP00000489682.1:p.Cys42Gly
ENST00000637689.1:c.-1157+260T>G	ENSP00000490496.1:n.-1157+260T>G
ENST00000637925.1:c.124T>G	ENSP00000489763.1:p.Cys42Gly
ENST00000638049.1:c.124T>G	ENSP00000490597.1:p.Cys42Gly
ENST00000371413.4:c.124T>G	ENSP00000360467.3:p.Cys42Gly
ENST00000371418.8:c.124T>G	ENSP00000360472.4:p.Cys42Gly
ENST00000478763.2:c.124T>G	ENSP00000486517.1:p.Cys42Gly
ENST00000627420.2:c.124T>G	ENSP00000487116.1:p.Cys42Gly
ENST00000627699.1:c.124T>G	ENSP00000485868.1:p.Cys42Gly
ENST00000629035.2:c.124T>G	ENSP00000486908.1:p.Cys42Gly
ENST00000630047.2:c.124T>G	ENSP00000485917.1:p.Cys42Gly
ENST00000630184.2:c.124T>G	ENSP00000486607.1:p.Cys42Gly
ENST00000630487.2:c.124T>G	ENSP00000486859.1:p.Cys42Gly
NM_001308275.1:c.124T>G	NP_001295204.1:p.Cys42Gly
NM_001308276.1:c.124T>G	NP_001295205.1:p.Cys42Gly
NM_005097.2:c.124T>G	NP_005088.1:p.Cys42Gly
NM_005097.3:c.124T>G	NP_005088.1:p.Cys42Gly
NR_131777.1:n.460T>G
XM_017016911.2:c.124T>G	XP_016872400.1:p.Cys42Gly
XM_017016912.2:c.124T>G	XP_016872401.1:p.Cys42Gly
NM_005097.4:c.124T>G MANE Select	NP_005088.1:p.Cys42Gly
NM_001308275.2:c.124T>G	NP_001295204.1:p.Cys42Gly
NM_001308276.2:c.124T>G	NP_001295205.1:p.Cys42Gly
NR_131777.2:n.333T>G