Assay Details
Target Gene Details
Entrez Gene ID: | 773 |
Gene Name: | calcium voltage-gated channel subunit alpha1 A |
Gene Aliases: |
APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6 |
Location: |
Chr.19:13206442-13506460 on Build GRCh38 |
Assay Gene Location: | Within Exon 36 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CACNA1A | NM_000068.3 | 36 | 5555 | NP_000059.3 |
NM_001127221.1 | 35 | 5540 | NP_001120693.1 | |
NM_001127222.1 | 35 | 5537 | NP_001120694.1 | |
NM_001174080.1 | 36 | 5546 | NP_001167551.1 | |
NM_023035.2 | 36 | 5555 | NP_075461.2 | |
AB035726.1 | 36 | 5339 | BAA94765.1 | |
AB035727.2 | 35 | 5301 | BAA94766.2 | |
AF004883.1 | 36 | 5555 | AAB61612.1 | |
AF004884.1 | 36 | 5555 | AAB61613.1 | |
AF100774.1 | 8 | 762 | AAC77460.1 | |
FJ040507.1 | 36 | 5310 | ||
S76537.1 | 3 | 228 | AAB33068.1 | |
U79663.1 | 12 | 1370 | AAB49674.1 | |
U79664.1 | 12 | 1370 | AAB49675.1 | |
U79665.1 | 12 | 1370 | AAB49676.1 | |
U79666.1 | 35 | 5521 | AAB64179.1 | |
U79667.1 | 12 | 1370 | AAB49677.1 | |
U79668.1 | 12 | 1370 | AAB49678.1 | |
X99897.1 | 35 | 5582 | CAA68172.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv525967 | Chr.19:13212945 - 13624528 on Build GRCh38 | Gain | CACNA1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |