Canonical Allele Identifier: CA405306412
Community Standard Title: NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)
Gene: LGI4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35126608C>T , CM000681.2:g.35126608C>T GRCh38
NC_000019.9:g.35617512C>T , CM000681.1:g.35617512C>T GRCh37
NC_000019.8:g.40309352C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_139284.3:c.961G>A MANE Select NP_644813.1:p.Glu321Lys
ENST00000310123.8:c.961G>A MANE Select ENSP00000312273.3:p.Glu321Lys
NM_139284.2:c.961G>A NP_644813.1:p.Glu321Lys
ENST00000310123.7:c.961G>A ENSP00000312273.3:p.Glu321Lys
ENST00000392225.7:c.1038G>A ENSP00000376059.3:p.Pro346=
ENST00000493050.5:n.1020G>A
ENST00000587780.5:c.696G>A
ENST00000591840.5:n.420-1742G>A
XM_011526594.1:c.961G>A XP_011524896.1:p.Glu321Lys
XM_011526595.1:c.445G>A XP_011524897.1:p.Glu149Lys
XM_011526595.2:c.445G>A XP_011524897.1:p.Glu149Lys
XM_017026428.1:c.445G>A XP_016881917.1:p.Glu149Lys
XM_017026429.1:c.445G>A XP_016881918.1:p.Glu149Lys
XM_017026430.2:c.445G>A XP_016881919.1:p.Glu149Lys