Canonical Allele Identifier: CA5611176

Gene: LGI1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793280T>C , CM000672.2:g.93793280T>C	GRCh38
NC_000010.10:g.95553037T>C , CM000672.1:g.95553037T>C	GRCh37
NC_000010.9:g.95543027T>C	NCBI36
NG_011832.1:g.40472T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005097.4:c.768T>C MANE Select	NP_005088.1:p.Phe256=
ENST00000371418.9:c.768T>C MANE Select	ENSP00000360472.4:p.Phe256=
NM_001308275.1:c.768T>C	NP_001295204.1:p.Phe256=
NM_001308275.2:c.768T>C	NP_001295204.1:p.Phe256=
NM_001308276.1:c.624T>C	NP_001295205.1:p.Phe208=
NM_001308276.2:c.624T>C	NP_001295205.1:p.Phe208=
NM_005097.2:c.768T>C	NP_005088.1:p.Phe256=
NM_005097.3:c.768T>C	NP_005088.1:p.Phe256=
NR_131777.1:n.1032T>C
NR_131777.2:n.905T>C
ENST00000371413.4:c.768T>C	ENSP00000360467.3:p.Phe256=
ENST00000371418.8:c.768T>C	ENSP00000360472.4:p.Phe256=
ENST00000485458.3:n.4744T>C
ENST00000626307.1:n.4683T>C
ENST00000626946.1:n.438T>C
ENST00000627420.2:c.*477T>C	ENSP00000487116.1:n.*477T>C
ENST00000629035.2:c.696T>C	ENSP00000486908.1:p.Phe232=
ENST00000630047.2:c.624T>C	ENSP00000485917.1:p.Phe208=
ENST00000630487.2:c.*558T>C	ENSP00000486859.1:n.*558T>C
ENST00000635953.1:c.768T>C	ENSP00000490058.1:p.Phe256=
ENST00000636155.1:c.768T>C	ENSP00000490355.1:p.Phe256=
ENST00000636232.1:c.*554T>C	ENSP00000490325.1:n.*554T>C
ENST00000636754.1:c.*610T>C	ENSP00000489781.1:n.*610T>C
ENST00000636946.1:c.*937T>C	ENSP00000490654.1:n.*937T>C
ENST00000637037.1:c.*358T>C	ENSP00000490860.1:n.*358T>C
ENST00000637347.1:n.629T>C
ENST00000637611.1:c.*324T>C	ENSP00000489682.1:n.*324T>C
ENST00000637689.1:c.-604T>C	ENSP00000490496.1:n.-604T>C
ENST00000637925.1:c.*363T>C	ENSP00000489763.1:n.*363T>C
ENST00000638049.1:c.*526T>C	ENSP00000490597.1:n.*526T>C
ENST00000676175.1:n.2507T>C
XM_017016911.2:c.768T>C	XP_016872400.1:p.Phe256=
XM_017016912.2:c.624T>C	XP_016872401.1:p.Phe208=