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.
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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.
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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.
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Statistics

Exons: 2 Coding exons: 2 Transcript length: 1,607 bps Translation length: 42 residues

Ensembl version

ENST00000593280.2

Type

Putative protein coding

Prediction Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:

Transcript-based displays