Linked Data
ClinVar Variation Id:
363599
dbSNP Id:
rs774898194
ExAC:
8:68334765 T / C
gnomAD v2:
8-68334765-T-C
gnomAD v4:
8-67422530-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67422530T>C , CM000670.2:g.67422530T>C | GRCh38 |
| NC_000008.10:g.68334765T>C , CM000670.1:g.68334765T>C | GRCh37 |
| NC_000008.9:g.68497319T>C | NCBI36 |
| NG_027682.1:g.328856A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297770.10:c.1288A>G (CPA6) MANE Select | ENSP00000297770.4:p.Met430Val | |
| ENST00000638254.1:c.*884A>G (CPA6) | ENSP00000491129.1:n.*884A>G | |
| ENST00000639116.1:n.808A>G (CPA6) | ||
| ENST00000639508.1:n.261A>G (CPA6) | ||
| ENST00000297770.8:c.1288A>G (CPA6) | ENSP00000297770.4:p.Met430Val | |
| ENST00000479862.6:c.*596A>G (CPA6) | ENSP00000419016.2:n.*596A>G | |
| NM_020361.4:c.1288A>G (CPA6) | NP_065094.3:p.Met430Val | |
| XM_011517569.1:c.1381A>G (CPA6) | XP_011515871.1:p.Met461Val | |
| XM_011517570.1:c.844A>G (CPA6) | XP_011515872.1:p.Met282Val | |
| NR_136224.1:n.470-19680T>C (ARFGEF1-DT) | ||
| XM_011517570.2:c.844A>G (CPA6) | XP_011515872.1:p.Met282Val | |
| XM_017013646.1:c.844A>G (CPA6) | XP_016869135.1:p.Met282Val | |
| NM_020361.5:c.1288A>G (CPA6) MANE Select | NP_065094.3:p.Met430Val |