Gene: LIPA ENSG00000107798

Description

lipase A, lysosomal acid, cholesterol esterase [Source:HGNC Symbol;Acc:6617]

Gene Synonyms

CESD, LAL

Location

Chromosome 10: 90,973,326-91,174,314 reverse strand.

GRCh37:CM000672.1

About this gene

This gene has 8 transcripts (splice variants), 5 paralogues and is associated with 4 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000336233.5	LIPA-001	2782	399aa	ENSP00000337354.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7401	B4DE67 P38571 Q5T073 Q5T770	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000456827.1	LIPA-201	2651	399aa	ENSP00000413019.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7401	B4DE67 P38571 Q5T073 Q5T770	NM_001127605.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000371837.1	LIPA-004	2513	343aa	ENSP00000360903.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DE67 P38571	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000428800.1	LIPA-002	1055	290aa	ENSP00000388415.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5T073 Q5T770	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000282673.4	LIPA-005	753	219aa	ENSP00000282673.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5T770	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000487618.1	LIPA-006	858	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000463623.1	LIPA-007	510	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000489359.1	LIPA-008	461	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: LIPA ENSG00000107798

Summary