Canonical Allele Identifier: CA5611183

Gene: LGI1

Linked Data

• dbSNP Id: rs377206644
• ExAC: 10:95553094 T / C
• gnomAD v2: 10-95553094-T-C
• gnomAD v3: 10-93793337-T-C
• gnomAD v4: 10-93793337-T-C
• MyVariant Identifiers: chr10:g.95553094T>C (hg19) ; chr10:g.93793337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793337T>C , CM000672.2:g.93793337T>C	GRCh38
NC_000010.10:g.95553094T>C , CM000672.1:g.95553094T>C	GRCh37
NC_000010.9:g.95543084T>C	NCBI36
NG_011832.1:g.40529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.825T>C MANE Select	ENSP00000360472.4:p.Tyr275=
ENST00000485458.3:n.4801T>C
ENST00000635953.1:c.825T>C	ENSP00000490058.1:p.Tyr275=
ENST00000636155.1:c.825T>C	ENSP00000490355.1:p.Tyr275=
ENST00000636232.1:c.*611T>C	ENSP00000490325.1:n.*611T>C
ENST00000636754.1:c.*667T>C	ENSP00000489781.1:n.*667T>C
ENST00000636946.1:c.*994T>C	ENSP00000490654.1:n.*994T>C
ENST00000637037.1:c.*415T>C	ENSP00000490860.1:n.*415T>C
ENST00000637347.1:n.686T>C
ENST00000637611.1:c.*381T>C	ENSP00000489682.1:n.*381T>C
ENST00000637689.1:c.-547T>C	ENSP00000490496.1:n.-547T>C
ENST00000637925.1:c.*420T>C	ENSP00000489763.1:n.*420T>C
ENST00000638049.1:c.*583T>C	ENSP00000490597.1:n.*583T>C
ENST00000676175.1:n.2564T>C
ENST00000371413.4:c.825T>C	ENSP00000360467.3:p.Tyr275=
ENST00000371418.8:c.825T>C	ENSP00000360472.4:p.Tyr275=
ENST00000626307.1:n.4740T>C
ENST00000626946.1:n.495T>C
ENST00000627420.2:c.*534T>C	ENSP00000487116.1:n.*534T>C
ENST00000629035.2:c.753T>C	ENSP00000486908.1:p.Tyr251=
ENST00000630047.2:c.681T>C	ENSP00000485917.1:p.Tyr227=
ENST00000630487.2:c.*615T>C	ENSP00000486859.1:n.*615T>C
NM_001308275.1:c.825T>C	NP_001295204.1:p.Tyr275=
NM_001308276.1:c.681T>C	NP_001295205.1:p.Tyr227=
NM_005097.2:c.825T>C	NP_005088.1:p.Tyr275=
NM_005097.3:c.825T>C	NP_005088.1:p.Tyr275=
NR_131777.1:n.1089T>C
XM_017016911.2:c.825T>C	XP_016872400.1:p.Tyr275=
XM_017016912.2:c.681T>C	XP_016872401.1:p.Tyr227=
NM_005097.4:c.825T>C MANE Select	NP_005088.1:p.Tyr275=
NM_001308275.2:c.825T>C	NP_001295204.1:p.Tyr275=
NM_001308276.2:c.681T>C	NP_001295205.1:p.Tyr227=
NR_131777.2:n.962T>C