Assay Details
Target Gene Details
Entrez Gene ID: | 823 |
Gene Name: | calpain 1 |
Gene Aliases: |
CANP, CANP1, CANPL1, SPG76, muCANP, muCL |
Location: |
Chr.11:65181215-65212006 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CAPN1 | NM_001198868.1 | 4 | 584 | NP_001185797.1 |
NM_001198869.1 | 4 | 553 | NP_001185798.1 | |
NM_005186.3 | 4 | 569 | NP_005177.2 | |
NR_040008.1 | 3 | 499 | ||
XM_006718698.1 | 4 | 484 | XP_006718761.1 | |
XM_011545292.1 | 4 | 495 | XP_011543594.1 | |
AK301538.1 | 3 | 392 | ||
AK311001.1 | ||||
AK315556.1 | 4 | 498 | ||
AY550975.1 | 3 | 392 | AAT52221.1 | |
BC008751.2 | 4 | 520 | AAH08751.1 | |
BC017200.2 | 4 | 406 | AAH17200.1 | |
BC075862.1 | 4 | 487 | AAH75862.1 | |
DC365116.1 | 3 | 401 | ||
X04366.1 | 4 | 530 | CAA27881.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509418 | Chr.11:65164531 - 65202781 on Build GRCh38 | Insertion | SPDYC CAPN1 |
nsv526181 | Chr.11:64870569 - 65489858 on Build GRCh38 | Gain | ARL2 SYVN1 MRPL49 MIR6751 SLC25A45 MIR612 SAC3D1 MIR194-2HG NEAT1 GPHA2 SNX15 TM7SF2 DPF2 CDC42EP2 NAALADL1 FRMD8 CDCA5 SLC22A20 ZNHIT2 VPS51 LOC101927789 PPP2R5B ATG2A CAPN1 ARL2-SNX15 MIR192 MIR6749 MIR6750 TIGD3 MIR6879 MAJIN EHD1 ZFPL1 FAU SPDYC TMEM262 MIR194-2 POLA2 BATF2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |