Description
Hermansky-Pudlak syndrome 1 [Source:HGNC Symbol;Acc:5163]
Gene Synonyms
HPS
Location
Chromosome 10: 100,175,955-100,206,684 reverse strand.
GRCh37:CM000672.1
About this gene
This gene has 14 transcripts (splice variants) and is associated with 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000325103.6 | HPS1-009 | 3703 | 700aa | ENSP00000326649.6 | Protein coding | CCDS7475 | Q92902 | NM_000195.3 | GENCODE basic, |
ENST00000361490.4 | HPS1-011 | 3678 | 700aa | ENSP00000355310.4 | Protein coding | CCDS7475 | Q92902 | - | GENCODE basic, |
ENST00000338546.5 | HPS1-010 | 1580 | 324aa | ENSP00000343638.5 | Protein coding | CCDS7476 | Q92902 | NM_182639.2 | GENCODE basic, |
ENST00000359632.3 | HPS1-013 | 978 | 326aa | ENSP00000352652.3 | Protein coding | Q5TAA8 | - | CDS 5' and 3' incomplete, | |
ENST00000414009.1 | HPS1-014 | 857 | 159aa | ENSP00000392462.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000467246.1 | HPS1-012 | 2791 | No protein | - | Processed transcript | - | - | - | |
ENST00000478087.1 | HPS1-001 | 971 | No protein | - | Processed transcript | - | - | - | |
ENST00000465957.1 | HPS1-008 | 922 | No protein | - | Processed transcript | - | - | - | |
ENST00000498219.1 | HPS1-003 | 845 | No protein | - | Processed transcript | - | - | - | |
ENST00000470095.1 | HPS1-004 | 801 | No protein | - | Processed transcript | - | - | - | |
ENST00000480020.1 | HPS1-002 | 795 | No protein | - | Processed transcript | - | - | - | |
ENST00000474873.1 | HPS1-007 | 698 | No protein | - | Processed transcript | - | - | - | |
ENST00000497527.1 | HPS1-006 | 536 | No protein | - | Processed transcript | - | - | - | |
ENST00000462743.1 | HPS1-005 | 431 | No protein | - | Processed transcript | - | - | - |