Human (GRCh37.p13)
Description

Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:17022]

Gene Synonyms

AIBP63, KIAA1017

Location
About this transcript

This transcript has 6 exons, is associated with 3559 variant alleles and maps to 135 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000396253.3HPS5-00247171015aaENSP00000379552.3
 
Protein coding
CCDS7837F5GWM5 Q9UPZ3 NM_007216.3GENCODE basic
ENST00000349215.3HPS5-00144911129aaENSP00000265967.5
 
Protein coding
CCDS7836F5GWM5 Q9UPZ3 NM_181507.1GENCODE basic
ENST00000438420.2HPS5-00541471015aaENSP00000399590.2
 
Protein coding
CCDS7837F5GWM5 Q9UPZ3 NM_181508.1GENCODE basic
ENST00000531848.1HPS5-0032160400aaENSP00000431758.1
 
Protein coding
G3V159 -GENCODE basic
ENST00000537258.1HPS5-0071275263aaENSP00000437437.1
 
Protein coding
F5H6Q8 -GENCODE basic
ENST00000544218.1HPS5-009759160aaENSP00000441781.1
 
Protein coding
F5GWM5 -CDS 3' incomplete
ENST00000352460.3HPS5-0061642No protein-
 
Processed transcript
---
ENST00000589545.1HPS5-012485No protein-
 
Processed transcript
---
ENST00000543728.1HPS5-010320No protein-
 
Processed transcript
---
ENST00000545561.1HPS5-0081121No protein-
 
Retained intron
---
ENST00000399287.3HPS5-004711No protein-
 
Retained intron
---
Statistics

Exons: 6, Coding exons: 0, Transcript length: 1,121 bps,

Version

ENST00000545561.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000395868 (version 1)