Human (GRCh37.p13)
Description

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

Gene Synonyms

NPC

Location
About this transcript

This transcript has 25 exons, is annotated with 27 domains and features, is associated with 28138 variant alleles and maps to 829 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000269228.5NPC1-00151571278aaENSP00000269228.4
 
Protein coding
CCDS11878O15118 NM_000271.4GENCODE 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: 25, Coding exons: 25, Transcript length: 5,157 bps, Translation length: 1,278 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O15118

CCDS

This transcript is a member of the Human CCDS set: CCDS11878

Version

ENST00000269228.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000254823 (version 2)
GENCODE basic gene

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