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 12 exons, is annotated with 23 domains and features, is associated with 14020 variant alleles and maps to 1123 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: 12, Coding exons: 10, Transcript length: 4,139 bps, Translation length: 367 residues

MANE

This MANE Select transcript contains ENSP00000046640 and matches to NM_004937.3 and NP_004928.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: O60931

CCDS

This transcript is a member of the Human CCDS set: CCDS11031

Transcript Support Level (TSL)

TSL:1

Version

ENST00000046640.9

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.

GENCODE basic gene

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