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Human (GRCh37.p13)
Description

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

Gene Synonyms

NPC

Location

Chromosome 18: 21,086,148-21,166,862 reverse strand.

GRCh37:CM000680.1

About this gene

This gene has 15 transcripts (splice variants), 4 paralogues and is associated with 7 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000269228.5NPC1-00151571278aaENSP00000269228.4
 
Protein coding
CCDS11878O15118 NM_000271
NP_000262
GENCODE basic
ENST00000591051.1NPC1-0033171971aaENSP00000467636.1
 
Protein coding
B4DET3 -CDS 5' incomplete
ENST00000412552.2NPC1-2013171960aaENSP00000408606.2
 
Protein coding
B4DET3 -GENCODE basic
ENST00000593280.2NPC1-013160742aaENSP00000467150.1
 
Protein coding
--CDS 5' incomplete
ENST00000591107.2NPC1-002890179aaENSP00000468438.1
 
Protein coding
--CDS 5' incomplete
ENST00000590723.1NPC1-01475559aaENSP00000464755.1
 
Protein coding
K7EIH7 -CDS 5' incomplete
ENST00000586150.1NPC1-012571175aaENSP00000468321.1
 
Protein coding
--CDS 5' incomplete
ENST00000540608.1NPC1-0042790No protein-
 
Processed transcript
---
ENST00000587223.1NPC1-005590No protein-
 
Processed transcript
---
ENST00000588867.1NPC1-0102000No protein-
 
Retained intron
---
ENST00000591075.1NPC1-007809No protein-
 
Retained intron
---
ENST00000586718.1NPC1-009574No protein-
 
Retained intron
---
ENST00000591955.1NPC1-008561No protein-
 
Retained intron
---
ENST00000587163.1NPC1-011431No protein-
 
Retained intron
---
ENST00000590301.1NPC1-006410No protein-
 
Retained intron
---

Gene-based displays