Canonical Allele Identifier: CA9979345
Gene: LIPI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.14109044G>T , CM000683.2:g.14109044G>T GRCh38
NC_000021.8:g.15481365G>T , CM000683.1:g.15481365G>T GRCh37
NC_000021.7:g.14403236G>T NCBI36
NG_021434.2:g.102890C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001302998.2:c.1332C>A MANE Select NP_001289927.1:p.Asp444Glu
ENST00000681601.1:c.1332C>A MANE Select ENSP00000505323.1:p.Asp444Glu
NM_001302998.1:c.1332C>A NP_001289927.1:p.Asp444Glu
NM_001302999.1:c.1242C>A NP_001289928.1:p.Asp414Glu
NM_001302999.2:c.1242C>A NP_001289928.1:p.Asp414Glu
NM_001303000.1:c.1314C>A NP_001289929.1:p.Asp438Glu
NM_001303000.2:c.1314C>A NP_001289929.1:p.Asp438Glu
NM_001303001.1:c.1043C>A NP_001289930.1:p.Thr348Lys
NM_001303001.2:c.1043C>A NP_001289930.1:p.Thr348Lys
NM_001379565.1:c.1227C>A NP_001366494.1:p.Asp409Glu
NM_001379566.1:c.837C>A NP_001366495.1:p.Asp279Glu
NM_198996.3:c.1395C>A NP_945347.2:p.Asp465Glu
NM_198996.4:c.1197C>A NP_945347.3:p.Asp399Glu
ENST00000344577.6:c.1395C>A ENSP00000343331.2:p.Asp465Glu
ENST00000400211.3:c.1043C>A ENSP00000383072.3:p.Thr348Lys
ENST00000536861.5:c.1305C>A ENSP00000440381.2:p.Asp435Glu
ENST00000536861.6:c.1314C>A ENSP00000440381.3:p.Asp438Glu
ENST00000614229.4:c.1215C>A ENSP00000482652.1:p.Asp405Glu
ENST00000614229.5:c.1242C>A ENSP00000482652.2:p.Asp414Glu
ENST00000679868.1:c.837C>A ENSP00000506458.1:p.Asp279Glu
ENST00000680487.1:c.*336C>A ENSP00000506194.1:n.*336C>A
ENST00000680801.1:c.1227C>A ENSP00000505904.1:p.Asp409Glu
XM_006723966.1:c.1112C>A XP_006724029.1:p.Thr371Lys