Linked Data
ClinVar Variation Id:
562323
dbSNP Id:
rs1167476946
gnomAD v2:
16-2142493-G-A
gnomAD v4:
16-2092492-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092492G>A , CM000678.2:g.2092492G>A | GRCh38 |
| NC_000016.9:g.2142493G>A , CM000678.1:g.2142493G>A | GRCh37 |
| NC_000016.8:g.2082494G>A | NCBI36 |
| NG_008617.1:g.50729C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.11257C>T (PKD1) MANE Select | ENSP00000262304.4:p.Arg3753Trp | |
| ENST00000262304.8:c.11257C>T (PKD1) | ENSP00000262304.4:p.Arg3753Trp | |
| ENST00000423118.5:c.11254C>T (PKD1) | ENSP00000399501.1:p.Arg3752Trp | |
| ENST00000485120.1:n.106C>T (PKD1) | ||
| ENST00000487932.5:c.5819C>T (PKD1) | ENSP00000457132.1:n.5819C>T | |
| ENST00000562425.1:c.370C>T (PKD1) | ||
| ENST00000567355.1:n.420C>T (PKD1) | ||
| NM_000296.3:c.11254C>T (PKD1) | NP_000287.3:p.Arg3752Trp | |
| NM_001009944.2:c.11257C>T (PKD1) | NP_001009944.2:p.Arg3753Trp | |
| XM_005255370.2:c.8212C>T (PKD1) | XP_005255427.1:p.Arg2738Trp | |
| XM_011522525.1:c.11335C>T (PKD1) | XP_011520827.1:p.Arg3779Trp | |
| XM_011522526.1:c.11332C>T (PKD1) | XP_011520828.1:p.Arg3778Trp | |
| XM_011522527.1:c.11317C>T (PKD1) | XP_011520829.1:p.Arg3773Trp | |
| XM_011522528.1:c.11311C>T (PKD1) | XP_011520830.1:p.Arg3771Trp | |
| XM_011522529.1:c.11308C>T (PKD1) | XP_011520831.1:p.Arg3770Trp | |
| XM_011522530.1:c.11281C>T (PKD1) | XP_011520832.1:p.Arg3761Trp | |
| XM_011522531.1:c.11263C>T (PKD1) | XP_011520833.1:p.Arg3755Trp | |
| XM_011522532.1:c.11209C>T (PKD1) | XP_011520834.1:p.Arg3737Trp | |
| XM_011522533.1:c.11128C>T (PKD1) | XP_011520835.1:p.Arg3710Trp | |
| XM_011522534.1:c.11071C>T (PKD1) | XP_011520836.1:p.Arg3691Trp | |
| XM_011522535.1:c.9157C>T (PKD1) | XP_011520837.1:p.Arg3053Trp | |
| XM_011522537.1:c.8335C>T (PKD1) | XP_011520839.1:p.Arg2779Trp | |
| XR_932867.1:n.11350C>T (PKD1) | ||
| XR_932868.1:n.11110-304C>T (PKD1) | ||
| XR_932869.1:n.11110-304C>T (PKD1) | ||
| XR_932870.1:n.11210C>T (PKD1) | ||
| XR_933000.1:n.90-397G>A (PKD1-AS1) | ||
| XR_933001.1:n.180-397G>A (PKD1-AS1) | ||
| XR_933002.1:n.89-397G>A (PKD1-AS1) | ||
| XR_933003.1:n.89-397G>A (PKD1-AS1) | ||
| NR_135175.1:n.180-397G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8212C>T (PKD1) | XP_005255427.1:p.Arg2738Trp | |
| XM_011522528.3:c.11311C>T (PKD1) | XP_011520830.1:p.Arg3771Trp | |
| XM_011522529.2:c.11308C>T (PKD1) | XP_011520831.1:p.Arg3770Trp | |
| XM_011522537.2:c.8335C>T (PKD1) | XP_011520839.1:p.Arg2779Trp | |
| XM_024450298.1:c.11377C>T (PKD1) | XP_024306066.1:p.Arg3793Trp | |
| XM_024450299.1:c.11305C>T (PKD1) | XP_024306067.1:p.Arg3769Trp | |
| XM_024450300.1:c.11167C>T (PKD1) | XP_024306068.1:p.Arg3723Trp | |
| XM_024450301.1:c.9253C>T (PKD1) | XP_024306069.1:p.Arg3085Trp | |
| NM_000296.4:c.11254C>T (PKD1) | NP_000287.4:p.Arg3752Trp | |
| NM_001009944.3:c.11257C>T (PKD1) MANE Select | NP_001009944.3:p.Arg3753Trp |