Canonical Allele Identifier: CA5611186

Gene: LGI1

Linked Data

• ClinVar Variation Id: 1383318
• ClinVar RCV Id: RCV001924567
• dbSNP Id: rs752003436
• ExAC: 10:95553104 A / G
• gnomAD v2: 10-95553104-A-G
• gnomAD v4: 10-93793347-A-G
• MyVariant Identifiers: chr10:g.95553104A>G (hg19) ; chr10:g.93793347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793347A>G , CM000672.2:g.93793347A>G	GRCh38
NC_000010.10:g.95553104A>G , CM000672.1:g.95553104A>G	GRCh37
NC_000010.9:g.95543094A>G	NCBI36
NG_011832.1:g.40539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.835A>G MANE Select	ENSP00000360472.4:p.Thr279Ala
ENST00000485458.3:n.4811A>G
ENST00000635953.1:c.835A>G	ENSP00000490058.1:p.Thr279Ala
ENST00000636155.1:c.835A>G	ENSP00000490355.1:p.Thr279Ala
ENST00000636232.1:c.*621A>G	ENSP00000490325.1:n.*621A>G
ENST00000636754.1:c.*677A>G	ENSP00000489781.1:n.*677A>G
ENST00000636946.1:c.*1004A>G	ENSP00000490654.1:n.*1004A>G
ENST00000637037.1:c.*425A>G	ENSP00000490860.1:n.*425A>G
ENST00000637347.1:n.696A>G
ENST00000637611.1:c.*391A>G	ENSP00000489682.1:n.*391A>G
ENST00000637689.1:c.-537A>G	ENSP00000490496.1:n.-537A>G
ENST00000637925.1:c.*430A>G	ENSP00000489763.1:n.*430A>G
ENST00000638049.1:c.*593A>G	ENSP00000490597.1:n.*593A>G
ENST00000676175.1:n.2574A>G
ENST00000371413.4:c.835A>G	ENSP00000360467.3:p.Thr279Ala
ENST00000371418.8:c.835A>G	ENSP00000360472.4:p.Thr279Ala
ENST00000626307.1:n.4750A>G
ENST00000626946.1:n.505A>G
ENST00000627420.2:c.*544A>G	ENSP00000487116.1:n.*544A>G
ENST00000629035.2:c.763A>G	ENSP00000486908.1:p.Thr255Ala
ENST00000630047.2:c.691A>G	ENSP00000485917.1:p.Thr231Ala
ENST00000630487.2:c.*625A>G	ENSP00000486859.1:n.*625A>G
NM_001308275.1:c.835A>G	NP_001295204.1:p.Thr279Ala
NM_001308276.1:c.691A>G	NP_001295205.1:p.Thr231Ala
NM_005097.2:c.835A>G	NP_005088.1:p.Thr279Ala
NM_005097.3:c.835A>G	NP_005088.1:p.Thr279Ala
NR_131777.1:n.1099A>G
XM_017016911.2:c.835A>G	XP_016872400.1:p.Thr279Ala
XM_017016912.2:c.691A>G	XP_016872401.1:p.Thr231Ala
NM_005097.4:c.835A>G MANE Select	NP_005088.1:p.Thr279Ala
NM_001308275.2:c.835A>G	NP_001295204.1:p.Thr279Ala
NM_001308276.2:c.691A>G	NP_001295205.1:p.Thr231Ala
NR_131777.2:n.972A>G