Canonical Allele Identifier: CA315715

Gene: LGI1

Linked Data

• ClinVar Variation Id: 206027
• ClinVar RCV Id: RCV002415810 ; RCV002228824 ; RCV003133165
• dbSNP Id: rs140752487
• ExAC: 10:95553081 C / T
• gnomAD v2: 10-95553081-C-T
• gnomAD v3: 10-93793324-C-T
• gnomAD v4: 10-93793324-C-T
• MyVariant Identifiers: chr10:g.95553081C>T (hg19) ; chr10:g.93793324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793324C>T , CM000672.2:g.93793324C>T	GRCh38
NC_000010.10:g.95553081C>T , CM000672.1:g.95553081C>T	GRCh37
NC_000010.9:g.95543071C>T	NCBI36
NG_011832.1:g.40516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.812C>T MANE Select	ENSP00000360472.4:p.Thr271Ile
ENST00000485458.3:n.4788C>T
ENST00000635953.1:c.812C>T	ENSP00000490058.1:p.Thr271Ile
ENST00000636155.1:c.812C>T	ENSP00000490355.1:p.Thr271Ile
ENST00000636232.1:c.*598C>T	ENSP00000490325.1:n.*598C>T
ENST00000636754.1:c.*654C>T	ENSP00000489781.1:n.*654C>T
ENST00000636946.1:c.*981C>T	ENSP00000490654.1:n.*981C>T
ENST00000637037.1:c.*402C>T	ENSP00000490860.1:n.*402C>T
ENST00000637347.1:n.673C>T
ENST00000637611.1:c.*368C>T	ENSP00000489682.1:n.*368C>T
ENST00000637689.1:c.-560C>T	ENSP00000490496.1:n.-560C>T
ENST00000637925.1:c.*407C>T	ENSP00000489763.1:n.*407C>T
ENST00000638049.1:c.*570C>T	ENSP00000490597.1:n.*570C>T
ENST00000676175.1:n.2551C>T
ENST00000371413.4:c.812C>T	ENSP00000360467.3:p.Thr271Ile
ENST00000371418.8:c.812C>T	ENSP00000360472.4:p.Thr271Ile
ENST00000626307.1:n.4727C>T
ENST00000626946.1:n.482C>T
ENST00000627420.2:c.*521C>T	ENSP00000487116.1:n.*521C>T
ENST00000629035.2:c.740C>T	ENSP00000486908.1:p.Thr247Ile
ENST00000630047.2:c.668C>T	ENSP00000485917.1:p.Thr223Ile
ENST00000630487.2:c.*602C>T	ENSP00000486859.1:n.*602C>T
NM_001308275.1:c.812C>T	NP_001295204.1:p.Thr271Ile
NM_001308276.1:c.668C>T	NP_001295205.1:p.Thr223Ile
NM_005097.2:c.812C>T	NP_005088.1:p.Thr271Ile
NM_005097.3:c.812C>T	NP_005088.1:p.Thr271Ile
NR_131777.1:n.1076C>T
XM_017016911.2:c.812C>T	XP_016872400.1:p.Thr271Ile
XM_017016912.2:c.668C>T	XP_016872401.1:p.Thr223Ile
NM_005097.4:c.812C>T MANE Select	NP_005088.1:p.Thr271Ile
NM_001308275.2:c.812C>T	NP_001295204.1:p.Thr271Ile
NM_001308276.2:c.668C>T	NP_001295205.1:p.Thr223Ile
NR_131777.2:n.949C>T