Human (GRCh38.p14) ▼
Description

calsequestrin 1 [Source:HGNC Symbol;Acc:HGNC:1512]

Gene Synonyms

CASQ, CSQ1, PDIB1

Location

Chromosome 1: 160,190,212-160,201,886 forward strand.

GRCh38:CM000663.2

About this gene

This gene has 11 transcripts (splice variants), 117 orthologues, 1 paralogue and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000368078.8CASQ1-2011878396aaENSP00000357057.3
 
Protein coding
CCDS1198P31415 NM_001231.5MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P1TSL:1
ENST00001145226.1CASQ1-2112241396aaENSP00000809352.1
 
Protein coding
CCDS1198--Ensembl Canonical ExtendedGENCODE BasicAPPRIS P1
ENST00001045937.1CASQ1-2062238395aaENSP00000715754.1
 
Protein coding
--GENCODE Basic
ENST00001045938.1CASQ1-2072232393aaENSP00000715755.1
 
Protein coding
--GENCODE Basic
ENST00001045942.1CASQ1-2102229392aaENSP00000715759.1
 
Protein coding
--GENCODE Basic
ENST00000954563.2CASQ1-2052085344aaENSP00000624622.1
 
Protein coding
--GENCODE Basic
ENST00000954562.2CASQ1-2041964396aaENSP00000624621.1
 
Protein coding
CCDS1198--GENCODE BasicAPPRIS P1
ENST00000467691.2CASQ1-202988117aaENSP00000418051.1
 
Protein coding
C9JAC8 -GENCODE BasicTSL:3
ENST00001045939.1CASQ1-2082108202aaENSP00000715756.1
 
Nonsense mediated decay
---
ENST00001045941.1CASQ1-209207797aaENSP00000715758.1
 
Nonsense mediated decay
---
ENST00000481081.1CASQ1-203869No protein-
 
Retained intron
--TSL:2