Human (GRCh37.p13)
Description

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

Gene Synonyms

NPC

Location
About this transcript

This transcript has 18 exons, is annotated with 23 domains and features, is associated with 14749 variant alleles and maps to 511 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000269228.5NPC1-00151571278aaENSP00000269228.4
 
Protein coding
CCDS11878O15118 NM_000271.4Ensembl CanonicalGENCODE 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
---
Statistics

Exons: 18, Coding exons: 18, Transcript length: 3,171 bps, Translation length: 960 residues

Version

ENST00000412552.2

Type

Protein coding

Annotation Method

Annotation produced by the Ensembl genebuild.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.