Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:17022]
AIBP63, KIAA1017
Chromosome 11: 18,303,461-18,317,648 reverse strand.
This transcript has 8 exons, is associated with 6200 variant alleles and maps to 190 oligo probes.
This transcript is a product of gene ENSG00000110756.13 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000396253.3 | HPS5-002 | 4717 | 1015aa | ENSP00000379552.3 | Protein coding | CCDS7837 | F5GWM5 Q9UPZ3 | NM_007216.3 | GENCODE basic, |
ENST00000349215.3 | HPS5-001 | 4491 | 1129aa | ENSP00000265967.5 | Protein coding | CCDS7836 | F5GWM5 Q9UPZ3 | NM_181507.1 | GENCODE basic, |
ENST00000438420.2 | HPS5-005 | 4147 | 1015aa | ENSP00000399590.2 | Protein coding | CCDS7837 | F5GWM5 Q9UPZ3 | NM_181508.1 | GENCODE basic, |
ENST00000531848.1 | HPS5-003 | 2160 | 400aa | ENSP00000431758.1 | Protein coding | G3V159 | - | GENCODE basic, | |
ENST00000537258.1 | HPS5-007 | 1275 | 263aa | ENSP00000437437.1 | Protein coding | F5H6Q8 | - | GENCODE basic, | |
ENST00000544218.1 | HPS5-009 | 759 | 160aa | ENSP00000441781.1 | Protein coding | F5GWM5 | - | CDS 3' incomplete, | |
ENST00000352460.3 | HPS5-006 | 1642 | No protein | - | Processed transcript | - | - | - | |
ENST00000589545.1 | HPS5-012 | 485 | No protein | - | Processed transcript | - | - | - | |
ENST00000543728.1 | HPS5-010 | 320 | No protein | - | Processed transcript | - | - | - | |
ENST00000545561.1 | HPS5-008 | 1121 | No protein | - | Retained intron | - | - | - | |
ENST00000399287.3 | HPS5-004 | 711 | No protein | - | Retained intron | - | - | - |