Description
Niemann-Pick disease, type C1 [Source:HGNC Symbol;Acc:7897]
Gene Synonyms
NPC
Location
Chromosome 18: 21,111,401-21,166,862 reverse strand.
About this transcript
This transcript has 25 exons, is annotated with 27 domains and features, is associated with 28138 variant alleles and maps to 829 oligo probes.
Gene
This transcript is a product of gene ENSG00000141458.8 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000269228.5 | NPC1-001 | 5157 | 1278aa | ENSP00000269228.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11878 | O15118 | NM_000271.4 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000591051.1 | NPC1-003 | 3171 | 971aa | ENSP00000467636.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DET3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000412552.2 | NPC1-201 | 3171 | 960aa | ENSP00000408606.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DET3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000593280.2 | NPC1-013 | 1607 | 42aa | ENSP00000467150.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000591107.2 | NPC1-002 | 890 | 179aa | ENSP00000468438.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000590723.1 | NPC1-014 | 755 | 59aa | ENSP00000464755.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EIH7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000586150.1 | NPC1-012 | 571 | 175aa | ENSP00000468321.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000540608.1 | NPC1-004 | 2790 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000587223.1 | NPC1-005 | 590 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000588867.1 | NPC1-010 | 2000 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000591075.1 | NPC1-007 | 809 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000586718.1 | NPC1-009 | 574 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000591955.1 | NPC1-008 | 561 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000587163.1 | NPC1-011 | 431 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000590301.1 | NPC1-006 | 410 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |