Canonical Allele Identifier: CA377626685

Gene: LGI1

Linked Data

• dbSNP Id: rs2059986942
• gnomAD v4: 10-93797085-T-C
• MyVariant Identifiers: chr10:g.95556842T>C (hg19) ; chr10:g.93797085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93797085T>C , CM000672.2:g.93797085T>C	GRCh38
NC_000010.10:g.95556842T>C , CM000672.1:g.95556842T>C	GRCh37
NC_000010.9:g.95546832T>C	NCBI36
NG_011832.1:g.44277T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.956T>C MANE Select	ENSP00000360472.4:p.Ile319Thr
ENST00000485458.3:n.4932T>C
ENST00000635804.1:n.390T>C
ENST00000635953.1:c.*378T>C	ENSP00000490058.1:n.*378T>C
ENST00000636155.1:c.838+3735T>C	ENSP00000490355.1:n.838+3735T>C
ENST00000636232.1:c.*742T>C	ENSP00000490325.1:n.*742T>C
ENST00000636754.1:c.*798T>C	ENSP00000489781.1:n.*798T>C
ENST00000636946.1:c.*1008-664T>C	ENSP00000490654.1:n.*1008-664T>C
ENST00000637037.1:c.*546T>C	ENSP00000490860.1:n.*546T>C
ENST00000637347.1:n.817T>C
ENST00000637611.1:c.*512T>C	ENSP00000489682.1:n.*512T>C
ENST00000637689.1:c.-416T>C	ENSP00000490496.1:n.-416T>C
ENST00000637925.1:c.*551T>C	ENSP00000489763.1:n.*551T>C
ENST00000638049.1:c.*714T>C	ENSP00000490597.1:n.*714T>C
ENST00000676175.1:n.2695T>C
ENST00000371413.4:c.839-664T>C	ENSP00000360467.3:n.839-664T>C
ENST00000371418.8:c.956T>C	ENSP00000360472.4:p.Ile319Thr
ENST00000626307.1:n.4871T>C
ENST00000627420.2:c.*665T>C	ENSP00000487116.1:n.*665T>C
ENST00000629035.2:c.884T>C	ENSP00000486908.1:p.Ile295Thr
ENST00000630047.2:c.812T>C	ENSP00000485917.1:p.Ile271Thr
NM_001308275.1:c.839-664T>C	NP_001295204.1:n.839-664T>C
NM_001308276.1:c.812T>C	NP_001295205.1:p.Ile271Thr
NM_005097.2:c.956T>C	NP_005088.1:p.Ile319Thr
NM_005097.3:c.956T>C	NP_005088.1:p.Ile319Thr
NR_131777.1:n.1220T>C
XM_017016912.2:c.695-664T>C	XP_016872401.1:n.695-664T>C
NM_005097.4:c.956T>C MANE Select	NP_005088.1:p.Ile319Thr
NM_001308275.2:c.839-664T>C	NP_001295204.1:n.839-664T>C
NM_001308276.2:c.812T>C	NP_001295205.1:p.Ile271Thr
NR_131777.2:n.1093T>C