Linked Data
ClinVar Variation Id:
440097
dbSNP Id:
rs201409107
ExAC:
16:2144014 C / G
gnomAD v2:
16-2144014-C-G
gnomAD v3:
16-2094013-C-G
gnomAD v4:
16-2094013-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094013C>G , CM000678.2:g.2094013C>G | GRCh38 |
| NC_000016.9:g.2144014C>G , CM000678.1:g.2144014C>G | GRCh37 |
| NC_000016.8:g.2084015C>G | NCBI36 |
| NG_008617.1:g.49208G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10619G>C (PKD1) MANE Select | ENSP00000262304.4:p.Gly3540Ala | |
| ENST00000262304.8:c.10619G>C (PKD1) | ENSP00000262304.4:p.Gly3540Ala | |
| ENST00000423118.5:c.10616G>C (PKD1) | ENSP00000399501.1:p.Gly3539Ala | |
| ENST00000472659.1:n.56G>C (PKD1) | ||
| ENST00000487932.5:c.5181G>C (PKD1) | ENSP00000457132.1:n.5181G>C | |
| NM_000296.3:c.10616G>C (PKD1) | NP_000287.3:p.Gly3539Ala | |
| NM_001009944.2:c.10619G>C (PKD1) | NP_001009944.2:p.Gly3540Ala | |
| XM_005255370.2:c.7574G>C (PKD1) | XP_005255427.1:p.Gly2525Ala | |
| XM_011522525.1:c.10697G>C (PKD1) | XP_011520827.1:p.Gly3566Ala | |
| XM_011522526.1:c.10694G>C (PKD1) | XP_011520828.1:p.Gly3565Ala | |
| XM_011522527.1:c.10679G>C (PKD1) | XP_011520829.1:p.Gly3560Ala | |
| XM_011522528.1:c.10673G>C (PKD1) | XP_011520830.1:p.Gly3558Ala | |
| XM_011522529.1:c.10670G>C (PKD1) | XP_011520831.1:p.Gly3557Ala | |
| XM_011522530.1:c.10643G>C (PKD1) | XP_011520832.1:p.Gly3548Ala | |
| XM_011522531.1:c.10625G>C (PKD1) | XP_011520833.1:p.Gly3542Ala | |
| XM_011522532.1:c.10571G>C (PKD1) | XP_011520834.1:p.Gly3524Ala | |
| XM_011522533.1:c.10490G>C (PKD1) | XP_011520835.1:p.Gly3497Ala | |
| XM_011522534.1:c.10433G>C (PKD1) | XP_011520836.1:p.Gly3478Ala | |
| XM_011522535.1:c.8519G>C (PKD1) | XP_011520837.1:p.Gly2840Ala | |
| XM_011522537.1:c.7697G>C (PKD1) | XP_011520839.1:p.Gly2566Ala | |
| XR_932867.1:n.10712G>C (PKD1) | ||
| XR_932868.1:n.10712G>C (PKD1) | ||
| XR_932869.1:n.10712G>C (PKD1) | ||
| XR_932870.1:n.10712G>C (PKD1) | ||
| XR_933000.1:n.214-665C>G (PKD1-AS1) | ||
| XR_933001.1:n.304-708C>G (PKD1-AS1) | ||
| XR_933002.1:n.213-665C>G (PKD1-AS1) | ||
| XR_933003.1:n.213-708C>G (PKD1-AS1) | ||
| NR_135175.1:n.304-708C>G (PKD1-AS1) | ||
| XM_005255370.3:c.7574G>C (PKD1) | XP_005255427.1:p.Gly2525Ala | |
| XM_011522528.3:c.10673G>C (PKD1) | XP_011520830.1:p.Gly3558Ala | |
| XM_011522529.2:c.10670G>C (PKD1) | XP_011520831.1:p.Gly3557Ala | |
| XM_011522537.2:c.7697G>C (PKD1) | XP_011520839.1:p.Gly2566Ala | |
| XM_024450298.1:c.10739G>C (PKD1) | XP_024306066.1:p.Gly3580Ala | |
| XM_024450299.1:c.10667G>C (PKD1) | XP_024306067.1:p.Gly3556Ala | |
| XM_024450300.1:c.10529G>C (PKD1) | XP_024306068.1:p.Gly3510Ala | |
| XM_024450301.1:c.8615G>C (PKD1) | XP_024306069.1:p.Gly2872Ala | |
| NM_000296.4:c.10616G>C (PKD1) | NP_000287.4:p.Gly3539Ala | |
| NM_001009944.3:c.10619G>C (PKD1) MANE Select | NP_001009944.3:p.Gly3540Ala |