Description
Hermansky-Pudlak syndrome 1 [Source:HGNC Symbol;Acc:5163]
Gene Synonyms
HPS
Location
Chromosome 10: 100,190,328-100,206,619 reverse strand.
About this transcript
This transcript has 7 exons, is associated with 6567 variant alleles and maps to 186 oligo probes.
Gene
This transcript is a product of gene ENSG00000107521.14 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000325103.6 | HPS1-009 | 3703 | 700aa | ENSP00000326649.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7475 | Q92902 | NM_000195.3 | 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, |
| ENST00000361490.4 | HPS1-011 | 3678 | 700aa | ENSP00000355310.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7475 | Q92902 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000338546.5 | HPS1-010 | 1580 | 324aa | ENSP00000343638.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7476 | Q92902 | NM_182639.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000359632.3 | HPS1-013 | 978 | 326aa | ENSP00000352652.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5TAA8 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000414009.1 | HPS1-014 | 857 | 159aa | ENSP00000392462.1 | 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, | |
| ENST00000467246.1 | HPS1-012 | 2791 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000478087.1 | HPS1-001 | 971 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000465957.1 | HPS1-008 | 922 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000498219.1 | HPS1-003 | 845 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000470095.1 | HPS1-004 | 801 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000480020.1 | HPS1-002 | 795 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000474873.1 | HPS1-007 | 698 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000497527.1 | HPS1-006 | 536 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000462743.1 | HPS1-005 | 431 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |