Gene: CACNA1A ENSG00000141837

Description

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:HGNC Symbol;Acc:1388]

Gene Synonyms

APCA, BI, CACH4, CACN3, CACNL1A4, CAV2.1, Cav2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6

Location

Chromosome 19: 13,317,256-13,734,804 reverse strand.

GRCh37:CM000681.1

About this gene

This gene has 13 transcripts (splice variants), 3 paralogues and is associated with 12 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000360228.5	CACNA1A-001	8392	2506aa	ENSP00000353362.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45998	O00555 Q9UHM9 Q9UN69	NM_023035.2	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000573710.2	CACNA1A-002	7810	2261aa	ENSP00000460092.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45999	O00555 Q9UN69	NM_001127221.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000587525.1	CACNA1A-013	3765	981aa	ENSP00000467729.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7EQ95 O95387	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000585802.1	CACNA1A-012	3555	1180aa	ENSP00000465598.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7EKF7 Q9UHM9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000592864.1	CACNA1A-007	744	35aa	ENSP00000464729.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7EIF8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000574974.1	CACNA1A-006	659	103aa	ENSP00000459963.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L2V5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000573891.1	CACNA1A-004	819	79aa	ENSP00000460276.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000574822.1	CACNA1A-003	788	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000587451.1	CACNA1A-008	621	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000593160.1	CACNA1A-014	741	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000593267.1	CACNA1A-010	552	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000586190.1	CACNA1A-011	459	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000590205.1	CACNA1A-009	315	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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Gene: CACNA1A ENSG00000141837

Summary