Gene: CACNA1S ENSG00000081248

Description

calcium channel, voltage-dependent, L type, alpha 1S subunit [Source:HGNC Symbol;Acc:1397]

Gene Synonyms

CACH1, CACN1, CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP

Location

GRCh37:CM000663.1

About this gene

This gene has 2 transcripts (splice variants), 16 paralogues and is associated with 7 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000362061.3	CACNA1S-001	6166	1873aa	ENSP00000355192.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1407	Q12966 Q13062 Q13698	NM_000069.2	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,
ENST00000367338.3	CACNA1S-002	5994	1854aa	ENSP00000356307.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B1ALM3 Q12966 Q13062	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

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