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
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,
ENST00000368078.3	CASQ1-001	1897	396aa	ENSP00000357057.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1198	C9JAC8 P31415	-	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		-	-	-

Summary