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 13 exons, is annotated with 18 domains and features, is associated with 13397 variant alleles and maps to 594 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

Protein domains for ENSP00000371294.3