Canonical Allele Identifier: CA402422610
Community Standard Title: NM_006033.4(LIPG):c.1163A>T (p.Glu388Val)
Gene: LIPG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49583561A>T , CM000680.2:g.49583561A>T GRCh38
NC_000018.9:g.47109931A>T , CM000680.1:g.47109931A>T GRCh37
NC_000018.8:g.45363929A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006033.4:c.1163A>T MANE Select NP_006024.1:p.Glu388Val
ENST00000261292.9:c.1163A>T MANE Select ENSP00000261292.4:p.Glu388Val
NM_001308006.1:c.941A>T NP_001294935.1:p.Glu314Val
NM_001308006.2:c.941A>T NP_001294935.1:p.Glu314Val
NM_006033.2:c.1163A>T NP_006024.1:p.Glu388Val
NM_006033.3:c.1163A>T NP_006024.1:p.Glu388Val
ENST00000261292.8:c.1163A>T ENSP00000261292.4:p.Glu388Val
ENST00000427224.6:c.941A>T ENSP00000387978.2:p.Glu314Val
XM_005258390.1:c.1271A>T XP_005258447.1:p.Glu424Val
XM_011526265.1:c.1049A>T XP_011524567.1:p.Glu350Val
XM_011526265.3:c.1049A>T XP_011524567.1:p.Glu350Val
XM_011526267.1:c.923A>T XP_011524569.1:p.Glu308Val
XM_017026095.1:c.572A>T XP_016881584.1:p.Glu191Val