Canonical Allele Identifier: CA409820446
Community Standard Title: NM_001302998.2(LIPI):c.1331A>T (p.Asp444Val)
Gene: LIPI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.14109045T>A , CM000683.2:g.14109045T>A GRCh38
NC_000021.8:g.15481366T>A , CM000683.1:g.15481366T>A GRCh37
NC_000021.7:g.14403237T>A NCBI36
NG_021434.2:g.102889A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001302998.2:c.1331A>T MANE Select NP_001289927.1:p.Asp444Val
ENST00000681601.1:c.1331A>T MANE Select ENSP00000505323.1:p.Asp444Val
NM_001302998.1:c.1331A>T NP_001289927.1:p.Asp444Val
NM_001302999.1:c.1241A>T NP_001289928.1:p.Asp414Val
NM_001302999.2:c.1241A>T NP_001289928.1:p.Asp414Val
NM_001303000.1:c.1313A>T NP_001289929.1:p.Asp438Val
NM_001303000.2:c.1313A>T NP_001289929.1:p.Asp438Val
NM_001303001.1:c.1042A>T NP_001289930.1:p.Thr348Ser
NM_001303001.2:c.1042A>T NP_001289930.1:p.Thr348Ser
NM_001379565.1:c.1226A>T NP_001366494.1:p.Asp409Val
NM_001379566.1:c.836A>T NP_001366495.1:p.Asp279Val
NM_198996.3:c.1394A>T NP_945347.2:p.Asp465Val
NM_198996.4:c.1196A>T NP_945347.3:p.Asp399Val
ENST00000344577.6:c.1394A>T ENSP00000343331.2:p.Asp465Val
ENST00000400211.3:c.1042A>T ENSP00000383072.3:p.Thr348Ser
ENST00000536861.5:c.1304A>T ENSP00000440381.2:p.Asp435Val
ENST00000536861.6:c.1313A>T ENSP00000440381.3:p.Asp438Val
ENST00000614229.4:c.1214A>T ENSP00000482652.1:p.Asp405Val
ENST00000614229.5:c.1241A>T ENSP00000482652.2:p.Asp414Val
ENST00000679868.1:c.836A>T ENSP00000506458.1:p.Asp279Val
ENST00000680487.1:c.*335A>T ENSP00000506194.1:n.*335A>T
ENST00000680801.1:c.1226A>T ENSP00000505904.1:p.Asp409Val
XM_006723966.1:c.1111A>T XP_006724029.1:p.Thr371Ser