Gene: CASQ1 ENSG00000143318

Description

calsequestrin 1 (fast-twitch, skeletal muscle) [Source:HGNC Symbol;Acc:1512]

Gene Synonyms

CASQ, PDIB1

Location

GRCh37:CM000663.1

About this gene

This gene has 4 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000368078.3	CASQ1-001	1897	396aa	ENSP00000357057.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1198	C9JAC8 P31415	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000368079.3	CASQ1-201	1956	390aa	ENSP00000357058.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JAC8 P31415	NM_001231.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000467691.1	CASQ1-003	595	117aa	ENSP00000418051.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JAC8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000481081.1	CASQ1-002	869	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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