Canonical Allele Identifier: CA5611170

Gene: LGI1

Linked Data

• dbSNP Id: rs758813488
• ExAC: 10:95552963 C / T
• gnomAD v2: 10-95552963-C-T
• gnomAD v4: 10-93793206-C-T
• MyVariant Identifiers: chr10:g.95552963C>T (hg19) ; chr10:g.93793206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793206C>T , CM000672.2:g.93793206C>T	GRCh38
NC_000010.10:g.95552963C>T , CM000672.1:g.95552963C>T	GRCh37
NC_000010.9:g.95542953C>T	NCBI36
NG_011832.1:g.40398C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.694C>T MANE Select	ENSP00000360472.4:p.Leu232=
ENST00000485458.3:n.4670C>T
ENST00000635953.1:c.694C>T	ENSP00000490058.1:p.Leu232=
ENST00000636155.1:c.694C>T	ENSP00000490355.1:p.Leu232=
ENST00000636232.1:c.*480C>T	ENSP00000490325.1:n.*480C>T
ENST00000636754.1:c.*536C>T	ENSP00000489781.1:n.*536C>T
ENST00000636946.1:c.*863C>T	ENSP00000490654.1:n.*863C>T
ENST00000637037.1:c.*284C>T	ENSP00000490860.1:n.*284C>T
ENST00000637347.1:n.555C>T
ENST00000637611.1:c.*250C>T	ENSP00000489682.1:n.*250C>T
ENST00000637689.1:c.-678C>T	ENSP00000490496.1:n.-678C>T
ENST00000637925.1:c.*289C>T	ENSP00000489763.1:n.*289C>T
ENST00000638049.1:c.*452C>T	ENSP00000490597.1:n.*452C>T
ENST00000676175.1:n.2433C>T
ENST00000371413.4:c.694C>T	ENSP00000360467.3:p.Leu232=
ENST00000371418.8:c.694C>T	ENSP00000360472.4:p.Leu232=
ENST00000626307.1:n.4609C>T
ENST00000626946.1:n.364C>T
ENST00000627420.2:c.*403C>T	ENSP00000487116.1:n.*403C>T
ENST00000629035.2:c.622C>T	ENSP00000486908.1:p.Leu208=
ENST00000630047.2:c.550C>T	ENSP00000485917.1:p.Leu184=
ENST00000630412.1:n.482C>T
ENST00000630487.2:c.*484C>T	ENSP00000486859.1:n.*484C>T
NM_001308275.1:c.694C>T	NP_001295204.1:p.Leu232=
NM_001308276.1:c.550C>T	NP_001295205.1:p.Leu184=
NM_005097.2:c.694C>T	NP_005088.1:p.Leu232=
NM_005097.3:c.694C>T	NP_005088.1:p.Leu232=
NR_131777.1:n.958C>T
XM_017016911.2:c.694C>T	XP_016872400.1:p.Leu232=
XM_017016912.2:c.550C>T	XP_016872401.1:p.Leu184=
NM_005097.4:c.694C>T MANE Select	NP_005088.1:p.Leu232=
NM_001308275.2:c.694C>T	NP_001295204.1:p.Leu232=
NM_001308276.2:c.550C>T	NP_001295205.1:p.Leu184=
NR_131777.2:n.831C>T