Canonical Allele Identifier: CA511421619

Gene: LIPI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001302998.2:c.1332C>T MANE Select	NP_001289927.1:p.Asp444=
ENST00000681601.1:c.1332C>T MANE Select	ENSP00000505323.1:p.Asp444=
NM_001302998.1:c.1332C>T	NP_001289927.1:p.Asp444=
NM_001302999.1:c.1242C>T	NP_001289928.1:p.Asp414=
NM_001302999.2:c.1242C>T	NP_001289928.1:p.Asp414=
NM_001303000.1:c.1314C>T	NP_001289929.1:p.Asp438=
NM_001303000.2:c.1314C>T	NP_001289929.1:p.Asp438=
NM_001303001.1:c.1043C>T	NP_001289930.1:p.Thr348Ile
NM_001303001.2:c.1043C>T	NP_001289930.1:p.Thr348Ile
NM_001379565.1:c.1227C>T	NP_001366494.1:p.Asp409=
NM_001379566.1:c.837C>T	NP_001366495.1:p.Asp279=
NM_198996.3:c.1395C>T	NP_945347.2:p.Asp465=
NM_198996.4:c.1197C>T	NP_945347.3:p.Asp399=
ENST00000344577.6:c.1395C>T	ENSP00000343331.2:p.Asp465=
ENST00000400211.3:c.1043C>T	ENSP00000383072.3:p.Thr348Ile
ENST00000536861.5:c.1305C>T	ENSP00000440381.2:p.Asp435=
ENST00000536861.6:c.1314C>T	ENSP00000440381.3:p.Asp438=
ENST00000614229.4:c.1215C>T	ENSP00000482652.1:p.Asp405=
ENST00000614229.5:c.1242C>T	ENSP00000482652.2:p.Asp414=
ENST00000679868.1:c.837C>T	ENSP00000506458.1:p.Asp279=
ENST00000680487.1:c.*336C>T	ENSP00000506194.1:n.*336C>T
ENST00000680801.1:c.1227C>T	ENSP00000505904.1:p.Asp409=
XM_006723966.1:c.1112C>T	XP_006724029.1:p.Thr371Ile