Canonical Allele Identifier: CA317646262

Gene: LIPI

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.14152617T>G , CM000683.2:g.14152617T>G	GRCh38
NC_000021.8:g.15524938T>G , CM000683.1:g.15524938T>G	GRCh37
NC_000021.7:g.14446809T>G	NCBI36
NG_021434.2:g.59317A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400211.3:c.1006+10802A>C	ENSP00000383072.3:n.1006+10802A>C
ENST00000536861.6:c.1056A>C	ENSP00000440381.3:p.Lys352Asn
ENST00000614229.5:c.984A>C	ENSP00000482652.2:p.Lys328Asn
ENST00000679868.1:c.579A>C	ENSP00000506458.1:p.Lys193Asn
ENST00000680487.1:c.*78A>C	ENSP00000506194.1:n.*78A>C
ENST00000680801.1:c.969A>C	ENSP00000505904.1:p.Lys323Asn
ENST00000681601.1:c.1074A>C MANE Select	ENSP00000505323.1:p.Lys358Asn
ENST00000344577.6:c.1137A>C	ENSP00000343331.2:p.Lys379Asn
ENST00000536861.5:c.1047A>C	ENSP00000440381.2:p.Lys349Asn
ENST00000614229.4:c.957A>C	ENSP00000482652.1:p.Lys319Asn
NM_001302998.1:c.1074A>C	NP_001289927.1:p.Lys358Asn
NM_001302999.1:c.984A>C	NP_001289928.1:p.Lys328Asn
NM_001303000.1:c.1056A>C	NP_001289929.1:p.Lys352Asn
NM_001303001.1:c.1006+10802A>C	NP_001289930.1:n.1006+10802A>C
NM_198996.3:c.1137A>C	NP_945347.2:p.Lys379Asn
XM_006723965.2:c.1161A>C	XP_006724028.1:p.Lys387Asn
XM_006723966.1:c.1075+10820A>C	XP_006724029.1:n.1075+10820A>C
XM_006723965.3:c.1161A>C	XP_006724028.1:p.Lys387Asn
NM_001302998.2:c.1074A>C MANE Select	NP_001289927.1:p.Lys358Asn
NM_001302999.2:c.984A>C	NP_001289928.1:p.Lys328Asn
NM_001303000.2:c.1056A>C	NP_001289929.1:p.Lys352Asn
NM_001303001.2:c.1006+10802A>C	NP_001289930.1:n.1006+10802A>C
NM_001379565.1:c.969A>C	NP_001366494.1:p.Lys323Asn
NM_001379566.1:c.579A>C	NP_001366495.1:p.Lys193Asn
NM_198996.4:c.939A>C	NP_945347.3:p.Lys313Asn