Canonical Allele Identifier: CA5611038

Gene: LGI1

Linked Data

• ClinVar Variation Id: 931902
• ClinVar RCV Id: RCV001198897
• dbSNP Id: rs772750463
• ExAC: 10:95518576 C / T
• gnomAD v2: 10-95518576-C-T
• gnomAD v3: 10-93758819-C-T
• gnomAD v4: 10-93758819-C-T
• COSMIC: COSM3868086
• MyVariant Identifiers: chr10:g.95518576C>T (hg19) ; chr10:g.93758819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93758819C>T , CM000672.2:g.93758819C>T	GRCh38
NC_000010.10:g.95518576C>T , CM000672.1:g.95518576C>T	GRCh37
NC_000010.9:g.95508566C>T	NCBI36
NG_011832.1:g.6011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.275C>T MANE Select	ENSP00000360472.4:p.Ser92Leu
ENST00000635953.1:c.275C>T	ENSP00000490058.1:p.Ser92Leu
ENST00000636140.1:n.60C>T
ENST00000636155.1:c.275C>T	ENSP00000490355.1:p.Ser92Leu
ENST00000636232.1:c.*61C>T	ENSP00000490325.1:n.*61C>T
ENST00000636683.1:n.30C>T
ENST00000636754.1:c.*65C>T	ENSP00000489781.1:n.*65C>T
ENST00000636946.1:c.275C>T	ENSP00000490654.1:p.Ser92Leu
ENST00000637037.1:c.275C>T	ENSP00000490860.1:p.Ser92Leu
ENST00000637347.1:n.148+131C>T
ENST00000637611.1:c.275C>T	ENSP00000489682.1:p.Ser92Leu
ENST00000637689.1:c.-1097C>T	ENSP00000490496.1:n.-1097C>T
ENST00000637925.1:c.275C>T	ENSP00000489763.1:p.Ser92Leu
ENST00000638049.1:c.*33C>T	ENSP00000490597.1:n.*33C>T
ENST00000371413.4:c.275C>T	ENSP00000360467.3:p.Ser92Leu
ENST00000371418.8:c.275C>T	ENSP00000360472.4:p.Ser92Leu
ENST00000478763.2:c.275C>T	ENSP00000486517.1:p.Ser92Leu
ENST00000627420.2:c.*65C>T	ENSP00000487116.1:n.*65C>T
ENST00000627699.1:c.*65C>T	ENSP00000485868.1:n.*65C>T
ENST00000629035.2:c.215+460C>T	ENSP00000486908.1:n.215+460C>T
ENST00000630047.2:c.275C>T	ENSP00000485917.1:p.Ser92Leu
ENST00000630184.2:c.275C>T	ENSP00000486607.1:p.Ser92Leu
ENST00000630487.2:c.*65C>T	ENSP00000486859.1:n.*65C>T
NM_001308275.1:c.275C>T	NP_001295204.1:p.Ser92Leu
NM_001308276.1:c.275C>T	NP_001295205.1:p.Ser92Leu
NM_005097.2:c.275C>T	NP_005088.1:p.Ser92Leu
NM_005097.3:c.275C>T	NP_005088.1:p.Ser92Leu
NR_131777.1:n.620C>T
XM_017016911.2:c.275C>T	XP_016872400.1:p.Ser92Leu
XM_017016912.2:c.275C>T	XP_016872401.1:p.Ser92Leu
NM_005097.4:c.275C>T MANE Select	NP_005088.1:p.Ser92Leu
NM_001308275.2:c.275C>T	NP_001295204.1:p.Ser92Leu
NM_001308276.2:c.275C>T	NP_001295205.1:p.Ser92Leu
NR_131777.2:n.493C>T