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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: NPC1L1 ENSG00000015520

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Description

NPC1-like 1 [Source:HGNC Symbol;Acc:7898]

Gene Synonyms

NPC11L1

Location

Chromosome 7: 44,552,134-44,580,914 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 4 transcripts (splice variants), 4 paralogues and is associated with 2 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000289547.4	NPC1L1-001	5048	1359aa	ENSP00000289547.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5491	Q9UHC9	NM_013389.2	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,
ENST00000381160.3	NPC1L1-003	4141	1332aa	ENSP00000370552.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS43575	Q9UHC9	NM_001101648.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000546276.1	NPC1L1-201	4001	1286aa	ENSP00000438033.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7ZLE6	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000423141.1	NPC1L1-002	2554	724aa	ENSP00000404670.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9UHC9	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,

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Summary

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