Description

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

Location

Chromosome 18: 23,506,184-23,586,898 reverse strand.

GRCh38:CM000680.2

About this gene

This gene has 14 transcripts (splice variants), 68 orthologues, 6 paralogues, is a member of 3 Ensembl protein families and is associated with 7 phenotypes.

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

Gene-based displays