Canonical Allele Identifier: CA470800085

Gene: LGI1

Linked Data

• ClinVar Variation Id: 1518765
• ClinVar RCV Id: RCV002024108
• dbSNP Id: rs2059951017
• gnomAD v4: 10-93793217-A-G
• MyVariant Identifiers: chr10:g.95552974A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793217A>G , CM000672.2:g.93793217A>G	GRCh38
NC_000010.10:g.95552974A>G , CM000672.1:g.95552974A>G	GRCh37
NC_000010.9:g.95542964A>G	NCBI36
NG_011832.1:g.40409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.705A>G MANE Select	ENSP00000360472.4:p.Gln235=
ENST00000485458.3:n.4681A>G
ENST00000635953.1:c.705A>G	ENSP00000490058.1:p.Gln235=
ENST00000636155.1:c.705A>G	ENSP00000490355.1:p.Gln235=
ENST00000636232.1:c.*491A>G	ENSP00000490325.1:n.*491A>G
ENST00000636754.1:c.*547A>G	ENSP00000489781.1:n.*547A>G
ENST00000636946.1:c.*874A>G	ENSP00000490654.1:n.*874A>G
ENST00000637037.1:c.*295A>G	ENSP00000490860.1:n.*295A>G
ENST00000637347.1:n.566A>G
ENST00000637611.1:c.*261A>G	ENSP00000489682.1:n.*261A>G
ENST00000637689.1:c.-667A>G	ENSP00000490496.1:n.-667A>G
ENST00000637925.1:c.*300A>G	ENSP00000489763.1:n.*300A>G
ENST00000638049.1:c.*463A>G	ENSP00000490597.1:n.*463A>G
ENST00000676175.1:n.2444A>G
ENST00000371413.4:c.705A>G	ENSP00000360467.3:p.Gln235=
ENST00000371418.8:c.705A>G	ENSP00000360472.4:p.Gln235=
ENST00000626307.1:n.4620A>G
ENST00000626946.1:n.375A>G
ENST00000627420.2:c.*414A>G	ENSP00000487116.1:n.*414A>G
ENST00000629035.2:c.633A>G	ENSP00000486908.1:p.Gln211=
ENST00000630047.2:c.561A>G	ENSP00000485917.1:p.Gln187=
ENST00000630412.1:n.493A>G
ENST00000630487.2:c.*495A>G	ENSP00000486859.1:n.*495A>G
NM_001308275.1:c.705A>G	NP_001295204.1:p.Gln235=
NM_001308276.1:c.561A>G	NP_001295205.1:p.Gln187=
NM_005097.2:c.705A>G	NP_005088.1:p.Gln235=
NM_005097.3:c.705A>G	NP_005088.1:p.Gln235=
NR_131777.1:n.969A>G
XM_017016911.2:c.705A>G	XP_016872400.1:p.Gln235=
XM_017016912.2:c.561A>G	XP_016872401.1:p.Gln187=
NM_005097.4:c.705A>G MANE Select	NP_005088.1:p.Gln235=
NM_001308275.2:c.705A>G	NP_001295204.1:p.Gln235=
NM_001308276.2:c.561A>G	NP_001295205.1:p.Gln187=
NR_131777.2:n.842A>G