Canonical Allele Identifier: CA315711

Gene: LGI1

Linked Data

• ClinVar Variation Id: 206025
• ClinVar RCV Id: RCV000188033 ; RCV002228823 ; RCV004020274
• dbSNP Id: rs796052693
• MyVariant Identifiers: chr10:g.95518573C>T (hg19) ; chr10:g.93758816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93758816C>T , CM000672.2:g.93758816C>T	GRCh38
NC_000010.10:g.95518573C>T , CM000672.1:g.95518573C>T	GRCh37
NC_000010.9:g.95508563C>T	NCBI36
NG_011832.1:g.6008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.272C>T MANE Select	ENSP00000360472.4:p.Pro91Leu
ENST00000635953.1:c.272C>T	ENSP00000490058.1:p.Pro91Leu
ENST00000636140.1:n.57C>T
ENST00000636155.1:c.272C>T	ENSP00000490355.1:p.Pro91Leu
ENST00000636232.1:c.*58C>T	ENSP00000490325.1:n.*58C>T
ENST00000636683.1:n.27C>T
ENST00000636754.1:c.*62C>T	ENSP00000489781.1:n.*62C>T
ENST00000636946.1:c.272C>T	ENSP00000490654.1:p.Pro91Leu
ENST00000637037.1:c.272C>T	ENSP00000490860.1:p.Pro91Leu
ENST00000637347.1:n.148+128C>T
ENST00000637611.1:c.272C>T	ENSP00000489682.1:p.Pro91Leu
ENST00000637689.1:c.-1100C>T	ENSP00000490496.1:n.-1100C>T
ENST00000637925.1:c.272C>T	ENSP00000489763.1:p.Pro91Leu
ENST00000638049.1:c.*30C>T	ENSP00000490597.1:n.*30C>T
ENST00000371413.4:c.272C>T	ENSP00000360467.3:p.Pro91Leu
ENST00000371418.8:c.272C>T	ENSP00000360472.4:p.Pro91Leu
ENST00000478763.2:c.272C>T	ENSP00000486517.1:p.Pro91Leu
ENST00000627420.2:c.*62C>T	ENSP00000487116.1:n.*62C>T
ENST00000627699.1:c.*62C>T	ENSP00000485868.1:n.*62C>T
ENST00000629035.2:c.215+457C>T	ENSP00000486908.1:n.215+457C>T
ENST00000630047.2:c.272C>T	ENSP00000485917.1:p.Pro91Leu
ENST00000630184.2:c.272C>T	ENSP00000486607.1:p.Pro91Leu
ENST00000630487.2:c.*62C>T	ENSP00000486859.1:n.*62C>T
NM_001308275.1:c.272C>T	NP_001295204.1:p.Pro91Leu
NM_001308276.1:c.272C>T	NP_001295205.1:p.Pro91Leu
NM_005097.2:c.272C>T	NP_005088.1:p.Pro91Leu
NM_005097.3:c.272C>T	NP_005088.1:p.Pro91Leu
NR_131777.1:n.617C>T
XM_017016911.2:c.272C>T	XP_016872400.1:p.Pro91Leu
XM_017016912.2:c.272C>T	XP_016872401.1:p.Pro91Leu
NM_005097.4:c.272C>T MANE Select	NP_005088.1:p.Pro91Leu
NM_001308275.2:c.272C>T	NP_001295204.1:p.Pro91Leu
NM_001308276.2:c.272C>T	NP_001295205.1:p.Pro91Leu
NR_131777.2:n.490C>T