Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000325103.6HPS1-0093703700aaENSP00000326649.6
 
Protein coding
CCDS7475Q92902 NM_000195.3GENCODE basic
ENST00000361490.4HPS1-0113678700aaENSP00000355310.4
 
Protein coding
CCDS7475Q92902 -GENCODE basic
ENST00000338546.5HPS1-0101580324aaENSP00000343638.5
 
Protein coding
CCDS7476Q92902 NM_182639.2GENCODE basic
ENST00000359632.3HPS1-013978326aaENSP00000352652.3
 
Protein coding
Q5TAA8 -CDS 5' and 3' incomplete
ENST00000414009.1HPS1-014857159aaENSP00000392462.1
 
Protein coding
--CDS 5' incomplete
ENST00000467246.1HPS1-0122791No protein-
 
Processed transcript
---
ENST00000478087.1HPS1-001971No protein-
 
Processed transcript
---
ENST00000465957.1HPS1-008922No protein-
 
Processed transcript
---
ENST00000498219.1HPS1-003845No protein-
 
Processed transcript
---
ENST00000470095.1HPS1-004801No protein-
 
Processed transcript
---
ENST00000480020.1HPS1-002795No protein-
 
Processed transcript
---
ENST00000474873.1HPS1-007698No protein-
 
Processed transcript
---
ENST00000497527.1HPS1-006536No protein-
 
Processed transcript
---
ENST00000462743.1HPS1-005431No protein-
 
Processed transcript
---