Canonical Allele Identifier: CA211583658

Gene: LGI1

Linked Data

• ClinVar Variation Id: 2157935
• ClinVar RCV Id: RCV003079706
• dbSNP Id: rs926839552
• gnomAD v4: 10-93793203-G-T
• MyVariant Identifiers: chr10:g.95552960G>T (hg19) ; chr10:g.93793203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793203G>T , CM000672.2:g.93793203G>T	GRCh38
NC_000010.10:g.95552960G>T , CM000672.1:g.95552960G>T	GRCh37
NC_000010.9:g.95542950G>T	NCBI36
NG_011832.1:g.40395G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.691G>T MANE Select	ENSP00000360472.4:p.Asp231Tyr
ENST00000485458.3:n.4667G>T
ENST00000635953.1:c.691G>T	ENSP00000490058.1:p.Asp231Tyr
ENST00000636155.1:c.691G>T	ENSP00000490355.1:p.Asp231Tyr
ENST00000636232.1:c.*477G>T	ENSP00000490325.1:n.*477G>T
ENST00000636754.1:c.*533G>T	ENSP00000489781.1:n.*533G>T
ENST00000636946.1:c.*860G>T	ENSP00000490654.1:n.*860G>T
ENST00000637037.1:c.*281G>T	ENSP00000490860.1:n.*281G>T
ENST00000637347.1:n.552G>T
ENST00000637611.1:c.*247G>T	ENSP00000489682.1:n.*247G>T
ENST00000637689.1:c.-681G>T	ENSP00000490496.1:n.-681G>T
ENST00000637925.1:c.*286G>T	ENSP00000489763.1:n.*286G>T
ENST00000638049.1:c.*449G>T	ENSP00000490597.1:n.*449G>T
ENST00000676175.1:n.2430G>T
ENST00000371413.4:c.691G>T	ENSP00000360467.3:p.Asp231Tyr
ENST00000371418.8:c.691G>T	ENSP00000360472.4:p.Asp231Tyr
ENST00000626307.1:n.4606G>T
ENST00000626946.1:n.361G>T
ENST00000627420.2:c.*400G>T	ENSP00000487116.1:n.*400G>T
ENST00000629035.2:c.619G>T	ENSP00000486908.1:p.Asp207Tyr
ENST00000630047.2:c.547G>T	ENSP00000485917.1:p.Asp183Tyr
ENST00000630412.1:n.479G>T
ENST00000630487.2:c.*481G>T	ENSP00000486859.1:n.*481G>T
NM_001308275.1:c.691G>T	NP_001295204.1:p.Asp231Tyr
NM_001308276.1:c.547G>T	NP_001295205.1:p.Asp183Tyr
NM_005097.2:c.691G>T	NP_005088.1:p.Asp231Tyr
NM_005097.3:c.691G>T	NP_005088.1:p.Asp231Tyr
NR_131777.1:n.955G>T
XM_017016911.2:c.691G>T	XP_016872400.1:p.Asp231Tyr
XM_017016912.2:c.547G>T	XP_016872401.1:p.Asp183Tyr
NM_005097.4:c.691G>T MANE Select	NP_005088.1:p.Asp231Tyr
NM_001308275.2:c.691G>T	NP_001295204.1:p.Asp231Tyr
NM_001308276.2:c.547G>T	NP_001295205.1:p.Asp183Tyr
NR_131777.2:n.828G>T