Description

Niemann-Pick disease, type C1 [Source:HGNC Symbol;Acc:HGNC:7897]

Location
About this transcript

This transcript has 25 exons, is annotated with 27 domains and features, is associated with 763 variations and maps to 47 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NPC1-001ENST0000026922851571278aaENSP00000269228
 
Protein coding
CCDS11878O15118 NM_000271
NP_000262
TSL:1GENCODE basicAPPRIS P1
NPC1-003ENST000005910513171971aaENSP00000467636
 
Protein coding
-K7EQ23 -CDS 5' incompleteTSL:2
NPC1-013ENST00000593280160742aaENSP00000467150
 
Protein coding
-K7ENZ0 -CDS 5' incompleteTSL:1
NPC1-002ENST00000591107890179aaENSP00000468438
 
Protein coding
-K7ERW2 -CDS 5' incompleteTSL:3
NPC1-014ENST0000059072375559aaENSP00000464755
 
Protein coding
-K7EIH7 -CDS 5' incompleteTSL:4
NPC1-012ENST00000586150571175aaENSP00000468321
 
Protein coding
-K7ERM4 -CDS 5' incompleteTSL:3
NPC1-004ENST000005406082790No protein-
 
Processed transcript
---TSL:2
NPC1-005ENST00000587223590No protein-
 
Processed transcript
---TSL:4
NPC1-010ENST000005888672000No protein-
 
Retained intron
---TSL:5
NPC1-007ENST00000591075809No protein-
 
Retained intron
---TSL:4
NPC1-009ENST00000586718574No protein-
 
Retained intron
---TSL:3
NPC1-008ENST00000591955561No protein-
 
Retained intron
---TSL:4
NPC1-011ENST00000587163431No protein-
 
Retained intron
---TSL:2
NPC1-006ENST00000590301410No protein-
 
Retained intron
---TSL:2

Transcript-based displays