COSMIC:
COSM3754778 (not active)
Revel Score:
ENST00000262304 (MANE Select)
0.035
ENST00000423118
0.035
ENST00000306101
0.035
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12440773 (AFR)
Genomes Max Group AF
0.12597427 (AFR)
Exomes Max Group AF
0.12049571 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094175G>A , CM000678.2:g.2094175G>A | GRCh38 |
| NC_000016.9:g.2144176G>A , CM000678.1:g.2144176G>A | GRCh37 |
| NC_000016.8:g.2084177G>A | NCBI36 |
| NG_008617.1:g.49046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10535C>T (PKD1) MANE Select | ENSP00000262304.4:p.Ala3512Val | |
| ENST00000262304.8:c.10535C>T (PKD1) | ENSP00000262304.4:p.Ala3512Val | |
| ENST00000423118.5:c.10532C>T (PKD1) | ENSP00000399501.1:p.Ala3511Val | |
| ENST00000487932.5:c.5097C>T (PKD1) | ENSP00000457132.1:n.5097C>T | |
| NM_000296.3:c.10532C>T (PKD1) | NP_000287.3:p.Ala3511Val | |
| NM_001009944.2:c.10535C>T (PKD1) | NP_001009944.2:p.Ala3512Val | |
| XM_005255370.2:c.7490C>T (PKD1) | XP_005255427.1:p.Ala2497Val | |
| XM_011522525.1:c.10613C>T (PKD1) | XP_011520827.1:p.Ala3538Val | |
| XM_011522526.1:c.10610C>T (PKD1) | XP_011520828.1:p.Ala3537Val | |
| XM_011522527.1:c.10595C>T (PKD1) | XP_011520829.1:p.Ala3532Val | |
| XM_011522528.1:c.10589C>T (PKD1) | XP_011520830.1:p.Ala3530Val | |
| XM_011522529.1:c.10586C>T (PKD1) | XP_011520831.1:p.Ala3529Val | |
| XM_011522530.1:c.10559C>T (PKD1) | XP_011520832.1:p.Ala3520Val | |
| XM_011522531.1:c.10541C>T (PKD1) | XP_011520833.1:p.Ala3514Val | |
| XM_011522532.1:c.10487C>T (PKD1) | XP_011520834.1:p.Ala3496Val | |
| XM_011522533.1:c.10406C>T (PKD1) | XP_011520835.1:p.Ala3469Val | |
| XM_011522534.1:c.10349C>T (PKD1) | XP_011520836.1:p.Ala3450Val | |
| XM_011522535.1:c.8435C>T (PKD1) | XP_011520837.1:p.Ala2812Val | |
| XM_011522537.1:c.7613C>T (PKD1) | XP_011520839.1:p.Ala2538Val | |
| XR_932867.1:n.10628C>T (PKD1) | ||
| XR_932868.1:n.10628C>T (PKD1) | ||
| XR_932869.1:n.10628C>T (PKD1) | ||
| XR_932870.1:n.10628C>T (PKD1) | ||
| XR_933000.1:n.214-503G>A (PKD1-AS1) | ||
| XR_933001.1:n.304-546G>A (PKD1-AS1) | ||
| XR_933002.1:n.213-503G>A (PKD1-AS1) | ||
| XR_933003.1:n.213-546G>A (PKD1-AS1) | ||
| NR_135175.1:n.304-546G>A (PKD1-AS1) | ||
| XM_005255370.3:c.7490C>T (PKD1) | XP_005255427.1:p.Ala2497Val | |
| XM_011522528.3:c.10589C>T (PKD1) | XP_011520830.1:p.Ala3530Val | |
| XM_011522529.2:c.10586C>T (PKD1) | XP_011520831.1:p.Ala3529Val | |
| XM_011522537.2:c.7613C>T (PKD1) | XP_011520839.1:p.Ala2538Val | |
| XM_024450298.1:c.10655C>T (PKD1) | XP_024306066.1:p.Ala3552Val | |
| XM_024450299.1:c.10583C>T (PKD1) | XP_024306067.1:p.Ala3528Val | |
| XM_024450300.1:c.10445C>T (PKD1) | XP_024306068.1:p.Ala3482Val | |
| XM_024450301.1:c.8531C>T (PKD1) | XP_024306069.1:p.Ala2844Val | |
| NM_000296.4:c.10532C>T (PKD1) | NP_000287.4:p.Ala3511Val | |
| NM_001009944.3:c.10535C>T (PKD1) MANE Select | NP_001009944.3:p.Ala3512Val |