Linked Data
dbSNP Id:
rs748294066
ExAC:
16:2142529 T / G
gnomAD v2:
16-2142529-T-G
gnomAD v4:
16-2092528-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092528T>G , CM000678.2:g.2092528T>G | GRCh38 |
| NC_000016.9:g.2142529T>G , CM000678.1:g.2142529T>G | GRCh37 |
| NC_000016.8:g.2082530T>G | NCBI36 |
| NG_008617.1:g.50693A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11221A>C (PKD1) MANE Select | ENSP00000262304.4:p.Ser3741Arg | |
| ENST00000262304.8:c.11221A>C (PKD1) | ENSP00000262304.4:p.Ser3741Arg | |
| ENST00000423118.5:c.11218A>C (PKD1) | ENSP00000399501.1:p.Ser3740Arg | |
| ENST00000485120.1:n.70A>C (PKD1) | ||
| ENST00000487932.5:c.5783A>C (PKD1) | ENSP00000457132.1:n.5783A>C | |
| ENST00000562425.1:c.334A>C (PKD1) | ||
| ENST00000567355.1:n.384A>C (PKD1) | ||
| NM_000296.3:c.11218A>C (PKD1) | NP_000287.3:p.Ser3740Arg | |
| NM_001009944.2:c.11221A>C (PKD1) | NP_001009944.2:p.Ser3741Arg | |
| XM_005255370.2:c.8176A>C (PKD1) | XP_005255427.1:p.Ser2726Arg | |
| XM_011522525.1:c.11299A>C (PKD1) | XP_011520827.1:p.Ser3767Arg | |
| XM_011522526.1:c.11296A>C (PKD1) | XP_011520828.1:p.Ser3766Arg | |
| XM_011522527.1:c.11281A>C (PKD1) | XP_011520829.1:p.Ser3761Arg | |
| XM_011522528.1:c.11275A>C (PKD1) | XP_011520830.1:p.Ser3759Arg | |
| XM_011522529.1:c.11272A>C (PKD1) | XP_011520831.1:p.Ser3758Arg | |
| XM_011522530.1:c.11245A>C (PKD1) | XP_011520832.1:p.Ser3749Arg | |
| XM_011522531.1:c.11227A>C (PKD1) | XP_011520833.1:p.Ser3743Arg | |
| XM_011522532.1:c.11173A>C (PKD1) | XP_011520834.1:p.Ser3725Arg | |
| XM_011522533.1:c.11092A>C (PKD1) | XP_011520835.1:p.Ser3698Arg | |
| XM_011522534.1:c.11035A>C (PKD1) | XP_011520836.1:p.Ser3679Arg | |
| XM_011522535.1:c.9121A>C (PKD1) | XP_011520837.1:p.Ser3041Arg | |
| XM_011522537.1:c.8299A>C (PKD1) | XP_011520839.1:p.Ser2767Arg | |
| XR_932867.1:n.11314A>C (PKD1) | ||
| XR_932868.1:n.11110-340A>C (PKD1) | ||
| XR_932869.1:n.11110-340A>C (PKD1) | ||
| XR_932870.1:n.11174A>C (PKD1) | ||
| XR_933000.1:n.90-361T>G (PKD1-AS1) | ||
| XR_933001.1:n.180-361T>G (PKD1-AS1) | ||
| XR_933002.1:n.89-361T>G (PKD1-AS1) | ||
| XR_933003.1:n.89-361T>G (PKD1-AS1) | ||
| NR_135175.1:n.180-361T>G (PKD1-AS1) | ||
| XM_005255370.3:c.8176A>C (PKD1) | XP_005255427.1:p.Ser2726Arg | |
| XM_011522528.3:c.11275A>C (PKD1) | XP_011520830.1:p.Ser3759Arg | |
| XM_011522529.2:c.11272A>C (PKD1) | XP_011520831.1:p.Ser3758Arg | |
| XM_011522537.2:c.8299A>C (PKD1) | XP_011520839.1:p.Ser2767Arg | |
| XM_024450298.1:c.11341A>C (PKD1) | XP_024306066.1:p.Ser3781Arg | |
| XM_024450299.1:c.11269A>C (PKD1) | XP_024306067.1:p.Ser3757Arg | |
| XM_024450300.1:c.11131A>C (PKD1) | XP_024306068.1:p.Ser3711Arg | |
| XM_024450301.1:c.9217A>C (PKD1) | XP_024306069.1:p.Ser3073Arg | |
| NM_000296.4:c.11218A>C (PKD1) | NP_000287.4:p.Ser3740Arg | |
| NM_001009944.3:c.11221A>C (PKD1) MANE Select | NP_001009944.3:p.Ser3741Arg |