Human (GRCh38.p14)
Description

cystinosin, lysosomal cystine transporter [Source:HGNC Symbol;Acc:HGNC:2518]

Gene Synonyms

CTNS-LSB, PQLC4, SLC66A4

Location
About this transcript

This transcript has 5 exons, is annotated with 2 domains and features, is associated with 6252 variant alleles and maps to 159 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000046640.9CTNS-2014139367aaENSP00000046640.4
 
Protein coding
CCDS11031O60931-1 NM_004937.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000673965.1CTNS-2122657367aaENSP00000500995.1
 
Protein coding
CCDS11031O60931-1 -GENCODE basicAPPRIS P1
ENST00000381870.8CTNS-2022490400aaENSP00000371294.3
 
Protein coding
CCDS32530O60931-2 -GENCODE basicTSL:1
ENST00000673669.1CTNS-2112417220aaENSP00000501123.1
 
Protein coding
CCDS92228A0A669KB82 -GENCODE basic
ENST00000488623.6CTNS-2062322116aaENSP00000501016.1
 
Protein coding
A0A669KAZ5 -GENCODE basicTSL:3
ENST00000574776.6CTNS-2091570253aaENSP00000461118.2
 
Protein coding
I3L4A9 -TSL:4
ENST00000399306.7CTNS-203803122aaENSP00000382245.2
 
Protein coding
A8MXW3 -GENCODE basicTSL:3
ENST00000452111.5CTNS-20461775aaENSP00000408652.1
 
Protein coding
C9JMM9 -TSL:3CDS 3' incomplete
ENST00000574218.1CTNS-20858128aaENSP00000458912.1
 
Protein coding
I3L1K8 -TSL:5CDS 3' incomplete
ENST00000576979.1CTNS-210548162aaENSP00000458457.1
 
Protein coding
I3L0Z6 -TSL:5CDS 3' incomplete
ENST00000467663.5CTNS-20559053aaENSP00000461056.1
 
Nonsense mediated decay
I3L484 -TSL:3
ENST00000495445.5CTNS-207536No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 5, Coding exons: 3, Transcript length: 617 bps, Translation length: 75 residues

Transcript Support Level (TSL)

TSL:3

Incomplete CDS

CDS 3' incomplete

Version

ENST00000452111.5

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.