Linked Data
ClinVar Variation Id:
161731
ClinVar RCV Id:
RCV000149267
dbSNP Id:
rs193921039
COSMIC:
COSM1179042
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67422601C>G , CM000670.2:g.67422601C>G | GRCh38 |
| NC_000008.10:g.68334836C>G , CM000670.1:g.68334836C>G | GRCh37 |
| NC_000008.9:g.68497390C>G | NCBI36 |
| NG_027682.1:g.328785G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297770.10:c.1217G>C (CPA6) MANE Select | ENSP00000297770.4:p.Gly406Ala | |
| ENST00000638254.1:c.*813G>C (CPA6) | ENSP00000491129.1:n.*813G>C | |
| ENST00000639116.1:n.737G>C (CPA6) | ||
| ENST00000639508.1:n.190G>C (CPA6) | ||
| ENST00000297770.8:c.1217G>C (CPA6) | ENSP00000297770.4:p.Gly406Ala | |
| ENST00000479862.6:c.*525G>C (CPA6) | ENSP00000419016.2:n.*525G>C | |
| NM_020361.4:c.1217G>C (CPA6) | NP_065094.3:p.Gly406Ala | |
| XM_011517569.1:c.1310G>C (CPA6) | XP_011515871.1:p.Gly437Ala | |
| XM_011517570.1:c.773G>C (CPA6) | XP_011515872.1:p.Gly258Ala | |
| NR_136224.1:n.470-19609C>G (ARFGEF1-DT) | ||
| XM_011517570.2:c.773G>C (CPA6) | XP_011515872.1:p.Gly258Ala | |
| XM_017013646.1:c.773G>C (CPA6) | XP_016869135.1:p.Gly258Ala | |
| NM_020361.5:c.1217G>C (CPA6) MANE Select | NP_065094.3:p.Gly406Ala |