Description

Niemann-Pick disease, type C1 [Source:HGNC Symbol;Acc:HGNC:7897]

Synonyms

Location
Gene

This transcript is a product of gene ENSG00000141458

This gene has 14 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
NPC1-001ENST000002692285157 bp1278 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11878O15118 NM_000271
NP_000262
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
NPC1-003ENST000005910513171 bp971 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-B4DET3 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
NPC1-013ENST000005932801607 bp42 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
NPC1-002ENST00000591107890 bp179 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
NPC1-014ENST00000590723755 bp59 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-K7EIH7 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
NPC1-012ENST00000586150571 bp175 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
NPC1-004ENST000005406082790 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
NPC1-005ENST00000587223590 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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NPC1-010ENST000005888672000 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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NPC1-007ENST00000591075809 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
NPC1-009ENST00000586718574 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
NPC1-008ENST00000591955561 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
NPC1-011ENST00000587163431 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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NPC1-006ENST00000590301410 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
Statistics

Exons: 25 Coding exons: 25 Transcript length: 5,157 bps Translation length: 1,278 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS11878

Uniprot

This transcript corresponds to the following Uniprot identifiers: O15118

Ensembl version

ENST00000269228.6

Type

Known protein coding

Prediction Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays