Linked Data
dbSNP Id:
rs781108645
ExAC:
16:2144129 A / G
gnomAD v2:
16-2144129-A-G
gnomAD v4:
16-2094128-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094128A>G , CM000678.2:g.2094128A>G | GRCh38 |
| NC_000016.9:g.2144129A>G , CM000678.1:g.2144129A>G | GRCh37 |
| NC_000016.8:g.2084130A>G | NCBI36 |
| NG_008617.1:g.49093T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10582T>C (PKD1) MANE Select | ENSP00000262304.4:p.Trp3528Arg | |
| ENST00000262304.8:c.10582T>C (PKD1) | ENSP00000262304.4:p.Trp3528Arg | |
| ENST00000423118.5:c.10579T>C (PKD1) | ENSP00000399501.1:p.Trp3527Arg | |
| ENST00000472659.1:n.19T>C (PKD1) | ||
| ENST00000487932.5:c.5144T>C (PKD1) | ENSP00000457132.1:n.5144T>C | |
| NM_000296.3:c.10579T>C (PKD1) | NP_000287.3:p.Trp3527Arg | |
| NM_001009944.2:c.10582T>C (PKD1) | NP_001009944.2:p.Trp3528Arg | |
| XM_005255370.2:c.7537T>C (PKD1) | XP_005255427.1:p.Trp2513Arg | |
| XM_011522525.1:c.10660T>C (PKD1) | XP_011520827.1:p.Trp3554Arg | |
| XM_011522526.1:c.10657T>C (PKD1) | XP_011520828.1:p.Trp3553Arg | |
| XM_011522527.1:c.10642T>C (PKD1) | XP_011520829.1:p.Trp3548Arg | |
| XM_011522528.1:c.10636T>C (PKD1) | XP_011520830.1:p.Trp3546Arg | |
| XM_011522529.1:c.10633T>C (PKD1) | XP_011520831.1:p.Trp3545Arg | |
| XM_011522530.1:c.10606T>C (PKD1) | XP_011520832.1:p.Trp3536Arg | |
| XM_011522531.1:c.10588T>C (PKD1) | XP_011520833.1:p.Trp3530Arg | |
| XM_011522532.1:c.10534T>C (PKD1) | XP_011520834.1:p.Trp3512Arg | |
| XM_011522533.1:c.10453T>C (PKD1) | XP_011520835.1:p.Trp3485Arg | |
| XM_011522534.1:c.10396T>C (PKD1) | XP_011520836.1:p.Trp3466Arg | |
| XM_011522535.1:c.8482T>C (PKD1) | XP_011520837.1:p.Trp2828Arg | |
| XM_011522537.1:c.7660T>C (PKD1) | XP_011520839.1:p.Trp2554Arg | |
| XR_932867.1:n.10675T>C (PKD1) | ||
| XR_932868.1:n.10675T>C (PKD1) | ||
| XR_932869.1:n.10675T>C (PKD1) | ||
| XR_932870.1:n.10675T>C (PKD1) | ||
| XR_933000.1:n.214-550A>G (PKD1-AS1) | ||
| XR_933001.1:n.304-593A>G (PKD1-AS1) | ||
| XR_933002.1:n.213-550A>G (PKD1-AS1) | ||
| XR_933003.1:n.213-593A>G (PKD1-AS1) | ||
| NR_135175.1:n.304-593A>G (PKD1-AS1) | ||
| XM_005255370.3:c.7537T>C (PKD1) | XP_005255427.1:p.Trp2513Arg | |
| XM_011522528.3:c.10636T>C (PKD1) | XP_011520830.1:p.Trp3546Arg | |
| XM_011522529.2:c.10633T>C (PKD1) | XP_011520831.1:p.Trp3545Arg | |
| XM_011522537.2:c.7660T>C (PKD1) | XP_011520839.1:p.Trp2554Arg | |
| XM_024450298.1:c.10702T>C (PKD1) | XP_024306066.1:p.Trp3568Arg | |
| XM_024450299.1:c.10630T>C (PKD1) | XP_024306067.1:p.Trp3544Arg | |
| XM_024450300.1:c.10492T>C (PKD1) | XP_024306068.1:p.Trp3498Arg | |
| XM_024450301.1:c.8578T>C (PKD1) | XP_024306069.1:p.Trp2860Arg | |
| NM_000296.4:c.10579T>C (PKD1) | NP_000287.4:p.Trp3527Arg | |
| NM_001009944.3:c.10582T>C (PKD1) MANE Select | NP_001009944.3:p.Trp3528Arg |