Canonical Allele Identifier: CA409820445
Gene: LIPI HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001302998.2:c.1332C>G MANE Select NP_001289927.1:p.Asp444Glu
ENST00000681601.1:c.1332C>G MANE Select ENSP00000505323.1:p.Asp444Glu
NM_001302998.1:c.1332C>G NP_001289927.1:p.Asp444Glu
NM_001302999.1:c.1242C>G NP_001289928.1:p.Asp414Glu
NM_001302999.2:c.1242C>G NP_001289928.1:p.Asp414Glu
NM_001303000.1:c.1314C>G NP_001289929.1:p.Asp438Glu
NM_001303000.2:c.1314C>G NP_001289929.1:p.Asp438Glu
NM_001303001.1:c.1043C>G NP_001289930.1:p.Thr348Arg
NM_001303001.2:c.1043C>G NP_001289930.1:p.Thr348Arg
NM_001379565.1:c.1227C>G NP_001366494.1:p.Asp409Glu
NM_001379566.1:c.837C>G NP_001366495.1:p.Asp279Glu
NM_198996.3:c.1395C>G NP_945347.2:p.Asp465Glu
NM_198996.4:c.1197C>G NP_945347.3:p.Asp399Glu
ENST00000344577.6:c.1395C>G ENSP00000343331.2:p.Asp465Glu
ENST00000400211.3:c.1043C>G ENSP00000383072.3:p.Thr348Arg
ENST00000536861.5:c.1305C>G ENSP00000440381.2:p.Asp435Glu
ENST00000536861.6:c.1314C>G ENSP00000440381.3:p.Asp438Glu
ENST00000614229.4:c.1215C>G ENSP00000482652.1:p.Asp405Glu
ENST00000614229.5:c.1242C>G ENSP00000482652.2:p.Asp414Glu
ENST00000679868.1:c.837C>G ENSP00000506458.1:p.Asp279Glu
ENST00000680487.1:c.*336C>G ENSP00000506194.1:n.*336C>G
ENST00000680801.1:c.1227C>G ENSP00000505904.1:p.Asp409Glu
XM_006723966.1:c.1112C>G XP_006724029.1:p.Thr371Arg