Linked Data
ClinVar Variation Id:
284180
dbSNP Id:
rs138313759
ExAC:
8:68346339 T / C
gnomAD v2:
8-68346339-T-C
gnomAD v3:
8-67434104-T-C
gnomAD v4:
8-67434104-T-C
PubMed:
PMID:23105115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67434104T>C , CM000670.2:g.67434104T>C | GRCh38 |
| NC_000008.10:g.68346339T>C , CM000670.1:g.68346339T>C | GRCh37 |
| NC_000008.9:g.68508893T>C | NCBI36 |
| NG_027682.1:g.317282A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297770.10:c.975A>G (CPA6) MANE Select | ENSP00000297770.4:p.Ala325= | |
| ENST00000638254.1:c.*571A>G (CPA6) | ENSP00000491129.1:n.*571A>G | |
| ENST00000639116.1:n.495A>G (CPA6) | ||
| ENST00000297770.8:c.975A>G (CPA6) | ENSP00000297770.4:p.Ala325= | |
| ENST00000479862.6:c.*435-11413A>G (CPA6) | ENSP00000419016.2:n.*435-11413A>G | |
| NM_020361.4:c.975A>G (CPA6) | NP_065094.3:p.Ala325= | |
| XM_011517569.1:c.1068A>G (CPA6) | XP_011515871.1:p.Ala356= | |
| XM_011517570.1:c.531A>G (CPA6) | XP_011515872.1:p.Ala177= | |
| NR_136224.1:n.470-8106T>C (ARFGEF1-DT) | ||
| XM_011517570.2:c.531A>G (CPA6) | XP_011515872.1:p.Ala177= | |
| XM_017013646.1:c.531A>G (CPA6) | XP_016869135.1:p.Ala177= | |
| XR_001745565.1:n.1647-5973A>G (CPA6) | ||
| NM_020361.5:c.975A>G (CPA6) MANE Select | NP_065094.3:p.Ala325= |