gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000439 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00003169 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092181G>A , CM000678.2:g.2092181G>A | GRCh38 |
| NC_000016.9:g.2142182G>A , CM000678.1:g.2142182G>A | GRCh37 |
| NC_000016.8:g.2082183G>A | NCBI36 |
| NG_008617.1:g.51040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11277C>T (PKD1) MANE Select | ENSP00000262304.4:p.Tyr3759= | |
| ENST00000262304.8:c.11277C>T (PKD1) | ENSP00000262304.4:p.Tyr3759= | |
| ENST00000423118.5:c.11274C>T (PKD1) | ENSP00000399501.1:p.Tyr3758= | |
| ENST00000485120.1:n.126C>T (PKD1) | ||
| ENST00000487932.5:c.5839C>T (PKD1) | ENSP00000457132.1:n.5839C>T | |
| ENST00000562425.1:c.390C>T (PKD1) | ||
| ENST00000567355.1:n.440C>T (PKD1) | ||
| NM_000296.3:c.11274C>T (PKD1) | NP_000287.3:p.Tyr3758= | |
| NM_001009944.2:c.11277C>T (PKD1) | NP_001009944.2:p.Tyr3759= | |
| XM_005255370.2:c.8232C>T (PKD1) | XP_005255427.1:p.Tyr2744= | |
| XM_011522525.1:c.11355C>T (PKD1) | XP_011520827.1:p.Tyr3785= | |
| XM_011522526.1:c.11352C>T (PKD1) | XP_011520828.1:p.Tyr3784= | |
| XM_011522527.1:c.11337C>T (PKD1) | XP_011520829.1:p.Tyr3779= | |
| XM_011522528.1:c.11331C>T (PKD1) | XP_011520830.1:p.Tyr3777= | |
| XM_011522529.1:c.11328C>T (PKD1) | XP_011520831.1:p.Tyr3776= | |
| XM_011522530.1:c.11301C>T (PKD1) | XP_011520832.1:p.Tyr3767= | |
| XM_011522531.1:c.11283C>T (PKD1) | XP_011520833.1:p.Tyr3761= | |
| XM_011522532.1:c.11229C>T (PKD1) | XP_011520834.1:p.Tyr3743= | |
| XM_011522533.1:c.11148C>T (PKD1) | XP_011520835.1:p.Tyr3716= | |
| XM_011522534.1:c.11091C>T (PKD1) | XP_011520836.1:p.Tyr3697= | |
| XM_011522535.1:c.9177C>T (PKD1) | XP_011520837.1:p.Tyr3059= | |
| XM_011522537.1:c.8355C>T (PKD1) | XP_011520839.1:p.Tyr2785= | |
| XR_932867.1:n.11370C>T (PKD1) | ||
| XR_932868.1:n.11117C>T (PKD1) | ||
| XR_932869.1:n.11117C>T (PKD1) | ||
| XR_932870.1:n.11230C>T (PKD1) | ||
| XR_933000.1:n.89+567G>A (PKD1-AS1) | ||
| XR_933001.1:n.179+567G>A (PKD1-AS1) | ||
| XR_933002.1:n.88+573G>A (PKD1-AS1) | ||
| XR_933003.1:n.88+573G>A (PKD1-AS1) | ||
| NR_135175.1:n.179+567G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8232C>T (PKD1) | XP_005255427.1:p.Tyr2744= | |
| XM_011522528.3:c.11331C>T (PKD1) | XP_011520830.1:p.Tyr3777= | |
| XM_011522529.2:c.11328C>T (PKD1) | XP_011520831.1:p.Tyr3776= | |
| XM_011522537.2:c.8355C>T (PKD1) | XP_011520839.1:p.Tyr2785= | |
| XM_024450298.1:c.11397C>T (PKD1) | XP_024306066.1:p.Tyr3799= | |
| XM_024450299.1:c.11325C>T (PKD1) | XP_024306067.1:p.Tyr3775= | |
| XM_024450300.1:c.11187C>T (PKD1) | XP_024306068.1:p.Tyr3729= | |
| XM_024450301.1:c.9273C>T (PKD1) | XP_024306069.1:p.Tyr3091= | |
| NM_000296.4:c.11274C>T (PKD1) | NP_000287.4:p.Tyr3758= | |
| NM_001009944.3:c.11277C>T (PKD1) MANE Select | NP_001009944.3:p.Tyr3759= |