Linked Data
ClinVar Variation Id:
256892
dbSNP Id:
rs141946034
ExAC:
16:2144180 G / C
gnomAD v2:
16-2144180-G-C
gnomAD v3:
16-2094179-G-C
gnomAD v4:
16-2094179-G-C
PubMed:
PMID:22383692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094179G>C , CM000678.2:g.2094179G>C | GRCh38 |
| NC_000016.9:g.2144180G>C , CM000678.1:g.2144180G>C | GRCh37 |
| NC_000016.8:g.2084181G>C | NCBI36 |
| NG_008617.1:g.49042C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.10531C>G (PKD1) MANE Select | ENSP00000262304.4:p.Leu3511Val | |
| ENST00000262304.8:c.10531C>G (PKD1) | ENSP00000262304.4:p.Leu3511Val | |
| ENST00000423118.5:c.10528C>G (PKD1) | ENSP00000399501.1:p.Leu3510Val | |
| ENST00000487932.5:c.5093C>G (PKD1) | ENSP00000457132.1:n.5093C>G | |
| NM_000296.3:c.10528C>G (PKD1) | NP_000287.3:p.Leu3510Val | |
| NM_001009944.2:c.10531C>G (PKD1) | NP_001009944.2:p.Leu3511Val | |
| XM_005255370.2:c.7486C>G (PKD1) | XP_005255427.1:p.Leu2496Val | |
| XM_011522525.1:c.10609C>G (PKD1) | XP_011520827.1:p.Leu3537Val | |
| XM_011522526.1:c.10606C>G (PKD1) | XP_011520828.1:p.Leu3536Val | |
| XM_011522527.1:c.10591C>G (PKD1) | XP_011520829.1:p.Leu3531Val | |
| XM_011522528.1:c.10585C>G (PKD1) | XP_011520830.1:p.Leu3529Val | |
| XM_011522529.1:c.10582C>G (PKD1) | XP_011520831.1:p.Leu3528Val | |
| XM_011522530.1:c.10555C>G (PKD1) | XP_011520832.1:p.Leu3519Val | |
| XM_011522531.1:c.10537C>G (PKD1) | XP_011520833.1:p.Leu3513Val | |
| XM_011522532.1:c.10483C>G (PKD1) | XP_011520834.1:p.Leu3495Val | |
| XM_011522533.1:c.10402C>G (PKD1) | XP_011520835.1:p.Leu3468Val | |
| XM_011522534.1:c.10345C>G (PKD1) | XP_011520836.1:p.Leu3449Val | |
| XM_011522535.1:c.8431C>G (PKD1) | XP_011520837.1:p.Leu2811Val | |
| XM_011522537.1:c.7609C>G (PKD1) | XP_011520839.1:p.Leu2537Val | |
| XR_932867.1:n.10624C>G (PKD1) | ||
| XR_932868.1:n.10624C>G (PKD1) | ||
| XR_932869.1:n.10624C>G (PKD1) | ||
| XR_932870.1:n.10624C>G (PKD1) | ||
| XR_933000.1:n.214-499G>C (PKD1-AS1) | ||
| XR_933001.1:n.304-542G>C (PKD1-AS1) | ||
| XR_933002.1:n.213-499G>C (PKD1-AS1) | ||
| XR_933003.1:n.213-542G>C (PKD1-AS1) | ||
| NR_135175.1:n.304-542G>C (PKD1-AS1) | ||
| XM_005255370.3:c.7486C>G (PKD1) | XP_005255427.1:p.Leu2496Val | |
| XM_011522528.3:c.10585C>G (PKD1) | XP_011520830.1:p.Leu3529Val | |
| XM_011522529.2:c.10582C>G (PKD1) | XP_011520831.1:p.Leu3528Val | |
| XM_011522537.2:c.7609C>G (PKD1) | XP_011520839.1:p.Leu2537Val | |
| XM_024450298.1:c.10651C>G (PKD1) | XP_024306066.1:p.Leu3551Val | |
| XM_024450299.1:c.10579C>G (PKD1) | XP_024306067.1:p.Leu3527Val | |
| XM_024450300.1:c.10441C>G (PKD1) | XP_024306068.1:p.Leu3481Val | |
| XM_024450301.1:c.8527C>G (PKD1) | XP_024306069.1:p.Leu2843Val | |
| NM_000296.4:c.10528C>G (PKD1) | NP_000287.4:p.Leu3510Val | |
| NM_001009944.3:c.10531C>G (PKD1) MANE Select | NP_001009944.3:p.Leu3511Val |