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
| 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
