Linked Data
ClinVar Variation Id:
586240
dbSNP Id:
rs745763060
ExAC:
16:2144133 C / A
gnomAD v2:
16-2144133-C-A
gnomAD v3:
16-2094132-C-A
gnomAD v4:
16-2094132-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094132C>A , CM000678.2:g.2094132C>A | GRCh38 |
| NC_000016.9:g.2144133C>A , CM000678.1:g.2144133C>A | GRCh37 |
| NC_000016.8:g.2084134C>A | NCBI36 |
| NG_008617.1:g.49089G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10578G>T (PKD1) MANE Select | ENSP00000262304.4:p.Leu3526= | |
| ENST00000262304.8:c.10578G>T (PKD1) | ENSP00000262304.4:p.Leu3526= | |
| ENST00000423118.5:c.10575G>T (PKD1) | ENSP00000399501.1:p.Leu3525= | |
| ENST00000472659.1:n.15G>T (PKD1) | ||
| ENST00000487932.5:c.5140G>T (PKD1) | ENSP00000457132.1:n.5140G>T | |
| NM_000296.3:c.10575G>T (PKD1) | NP_000287.3:p.Leu3525= | |
| NM_001009944.2:c.10578G>T (PKD1) | NP_001009944.2:p.Leu3526= | |
| XM_005255370.2:c.7533G>T (PKD1) | XP_005255427.1:p.Leu2511= | |
| XM_011522525.1:c.10656G>T (PKD1) | XP_011520827.1:p.Leu3552= | |
| XM_011522526.1:c.10653G>T (PKD1) | XP_011520828.1:p.Leu3551= | |
| XM_011522527.1:c.10638G>T (PKD1) | XP_011520829.1:p.Leu3546= | |
| XM_011522528.1:c.10632G>T (PKD1) | XP_011520830.1:p.Leu3544= | |
| XM_011522529.1:c.10629G>T (PKD1) | XP_011520831.1:p.Leu3543= | |
| XM_011522530.1:c.10602G>T (PKD1) | XP_011520832.1:p.Leu3534= | |
| XM_011522531.1:c.10584G>T (PKD1) | XP_011520833.1:p.Leu3528= | |
| XM_011522532.1:c.10530G>T (PKD1) | XP_011520834.1:p.Leu3510= | |
| XM_011522533.1:c.10449G>T (PKD1) | XP_011520835.1:p.Leu3483= | |
| XM_011522534.1:c.10392G>T (PKD1) | XP_011520836.1:p.Leu3464= | |
| XM_011522535.1:c.8478G>T (PKD1) | XP_011520837.1:p.Leu2826= | |
| XM_011522537.1:c.7656G>T (PKD1) | XP_011520839.1:p.Leu2552= | |
| XR_932867.1:n.10671G>T (PKD1) | ||
| XR_932868.1:n.10671G>T (PKD1) | ||
| XR_932869.1:n.10671G>T (PKD1) | ||
| XR_932870.1:n.10671G>T (PKD1) | ||
| XR_933000.1:n.214-546C>A (PKD1-AS1) | ||
| XR_933001.1:n.304-589C>A (PKD1-AS1) | ||
| XR_933002.1:n.213-546C>A (PKD1-AS1) | ||
| XR_933003.1:n.213-589C>A (PKD1-AS1) | ||
| NR_135175.1:n.304-589C>A (PKD1-AS1) | ||
| XM_005255370.3:c.7533G>T (PKD1) | XP_005255427.1:p.Leu2511= | |
| XM_011522528.3:c.10632G>T (PKD1) | XP_011520830.1:p.Leu3544= | |
| XM_011522529.2:c.10629G>T (PKD1) | XP_011520831.1:p.Leu3543= | |
| XM_011522537.2:c.7656G>T (PKD1) | XP_011520839.1:p.Leu2552= | |
| XM_024450298.1:c.10698G>T (PKD1) | XP_024306066.1:p.Leu3566= | |
| XM_024450299.1:c.10626G>T (PKD1) | XP_024306067.1:p.Leu3542= | |
| XM_024450300.1:c.10488G>T (PKD1) | XP_024306068.1:p.Leu3496= | |
| XM_024450301.1:c.8574G>T (PKD1) | XP_024306069.1:p.Leu2858= | |
| NM_000296.4:c.10575G>T (PKD1) | NP_000287.4:p.Leu3525= | |
| NM_001009944.3:c.10578G>T (PKD1) MANE Select | NP_001009944.3:p.Leu3526= |