Human (GRCh38.p14)
Description

NPC intracellular cholesterol transporter 1 [Source:HGNC Symbol;Acc:HGNC:7897]

Gene Synonyms

SLC65A1

Location

Chromosome 18: 23,506,184-23,586,969 reverse strand.

GRCh38:CM000680.2

About this gene

This gene has 28 transcripts (splice variants), 209 orthologues, 10 paralogues and is associated with 7 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000269228.10NPC1-20147601278aaENSP00000269228.4
 
Protein coding
CCDS11878O15118-1 NM_000271.5MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P3TSL:1
ENST00000897526.1NPC1-21562721295aaENSP00000567585.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000949151.1NPC1-22250301237aaENSP00000619210.1
 
Protein coding
--GENCODE Basic
ENST00000949152.1NPC1-22349751222aaENSP00000619211.1
 
Protein coding
--GENCODE Basic
ENST00000897527.1NPC1-21649431274aaENSP00000567586.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000926494.1NPC1-22147281293aaENSP00000596553.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000897529.1NPC1-21847051280aaENSP00000567588.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000949154.1NPC1-22546621274aaENSP00000619213.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000949156.1NPC1-22746551274aaENSP00000619215.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000949155.1NPC1-22646231263aaENSP00000619214.1
 
Protein coding
--GENCODE Basic
ENST00000949157.1NPC1-22846231265aaENSP00000619216.1
 
Protein coding
--GENCODE Basic
ENST00000949153.1NPC1-22446141257aaENSP00000619212.1
 
Protein coding
--GENCODE Basic
ENST00000926493.1NPC1-22046081248aaENSP00000596552.1
 
Protein coding
--GENCODE Basic
ENST00000897528.1NPC1-21745291210aaENSP00000567587.1
 
Protein coding
--GENCODE Basic
ENST00000897530.1NPC1-21945081231aaENSP00000567589.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000591051.1NPC1-2103171971aaENSP00000467636.1
 
Protein coding
K7EQ23 -TSL:2CDS 5' incomplete
ENST00000593280.2NPC1-214160742aaENSP00000467150.1
 
Protein coding
K7ENZ0 -TSL:1CDS 5' incomplete
ENST00000591107.6NPC1-212890179aaENSP00000468438.1
 
Protein coding
K7ERW2 -TSL:3CDS 5' incomplete
ENST00000590723.5NPC1-20975559aaENSP00000464755.1
 
Protein coding
K7EIH7 -TSL:4CDS 5' incomplete
ENST00000586150.5NPC1-203571175aaENSP00000468321.1
 
Protein coding
K7ERM4 -TSL:3CDS 5' incomplete
ENST00000540608.5NPC1-2022790No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000587223.1NPC1-206590No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000588867.1NPC1-2072000No protein-
 
Retained intron
--TSL:5
ENST00000591075.1NPC1-211809No protein-
 
Retained intron
--TSL:4
ENST00000586718.1NPC1-204574No protein-
 
Retained intron
--TSL:3
ENST00000591955.1NPC1-213561No protein-
 
Retained intron
--TSL:4
ENST00000587163.1NPC1-205431No protein-
 
Retained intron
--TSL:2
ENST00000590301.1NPC1-208410No protein-
 
Retained intron
--TSL:2