Description
Hermansky-Pudlak syndrome 1 [Source:HGNC Symbol;Acc:5163]
Gene Synonyms
HPS
Location
Chromosome 10: 100,183,365-100,193,848 reverse strand.
About this transcript
This transcript has 9 exons, is associated with 4986 variant alleles and maps to 208 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 | 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 | - | - | - |