Linked Data
ClinVar Variation Id:
8201
dbSNP Id:
rs199476098
gnomAD v2:
16-2141862-G-T
gnomAD v4:
16-2091861-G-T
PubMed:
PMID:8845849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2091861G>T , CM000678.2:g.2091861G>T | GRCh38 |
| NC_000016.9:g.2141862G>T , CM000678.1:g.2141862G>T | GRCh37 |
| NC_000016.8:g.2081863G>T | NCBI36 |
| NG_008617.1:g.51360C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11457C>A (PKD1) MANE Select | ENSP00000262304.4:p.Tyr3819Ter | |
| ENST00000262304.8:c.11457C>A (PKD1) | ENSP00000262304.4:p.Tyr3819Ter | |
| ENST00000423118.5:c.11454C>A (PKD1) | ENSP00000399501.1:p.Tyr3818Ter | |
| ENST00000485120.1:n.446C>A (PKD1) | ||
| ENST00000487932.5:c.6019C>A (PKD1) | ENSP00000457132.1:n.6019C>A | |
| ENST00000561668.5:c.125-7C>A (PKD1) | ||
| ENST00000562425.1:c.570C>A (PKD1) | ||
| ENST00000564313.1:n.153C>A (PKD1) | ||
| NM_000296.3:c.11454C>A (PKD1) | NP_000287.3:p.Tyr3818Ter | |
| NM_001009944.2:c.11457C>A (PKD1) | NP_001009944.2:p.Tyr3819Ter | |
| XM_005255370.2:c.8412C>A (PKD1) | XP_005255427.1:p.Tyr2804Ter | |
| XM_011522525.1:c.11535C>A (PKD1) | XP_011520827.1:p.Tyr3845Ter | |
| XM_011522526.1:c.11532C>A (PKD1) | XP_011520828.1:p.Tyr3844Ter | |
| XM_011522527.1:c.11517C>A (PKD1) | XP_011520829.1:p.Tyr3839Ter | |
| XM_011522528.1:c.11511C>A (PKD1) | XP_011520830.1:p.Tyr3837Ter | |
| XM_011522529.1:c.11508C>A (PKD1) | XP_011520831.1:p.Tyr3836Ter | |
| XM_011522530.1:c.11481C>A (PKD1) | XP_011520832.1:p.Tyr3827Ter | |
| XM_011522531.1:c.11463C>A (PKD1) | XP_011520833.1:p.Tyr3821Ter | |
| XM_011522532.1:c.11409C>A (PKD1) | XP_011520834.1:p.Tyr3803Ter | |
| XM_011522533.1:c.11328C>A (PKD1) | XP_011520835.1:p.Tyr3776Ter | |
| XM_011522534.1:c.11271C>A (PKD1) | XP_011520836.1:p.Tyr3757Ter | |
| XM_011522535.1:c.9357C>A (PKD1) | XP_011520837.1:p.Tyr3119Ter | |
| XM_011522537.1:c.8535C>A (PKD1) | XP_011520839.1:p.Tyr2845Ter | |
| XR_932867.1:n.11550C>A (PKD1) | ||
| XR_932868.1:n.11297C>A (PKD1) | ||
| XR_932869.1:n.11297C>A (PKD1) | ||
| XR_932870.1:n.11410C>A (PKD1) | ||
| XR_933000.1:n.89+247G>T (PKD1-AS1) | ||
| XR_933001.1:n.179+247G>T (PKD1-AS1) | ||
| XR_933002.1:n.88+253G>T (PKD1-AS1) | ||
| XR_933003.1:n.88+253G>T (PKD1-AS1) | ||
| NR_135175.1:n.179+247G>T (PKD1-AS1) | ||
| XM_005255370.3:c.8412C>A (PKD1) | XP_005255427.1:p.Tyr2804Ter | |
| XM_011522528.3:c.11511C>A (PKD1) | XP_011520830.1:p.Tyr3837Ter | |
| XM_011522529.2:c.11508C>A (PKD1) | XP_011520831.1:p.Tyr3836Ter | |
| XM_011522537.2:c.8535C>A (PKD1) | XP_011520839.1:p.Tyr2845Ter | |
| XM_024450298.1:c.11577C>A (PKD1) | XP_024306066.1:p.Tyr3859Ter | |
| XM_024450299.1:c.11505C>A (PKD1) | XP_024306067.1:p.Tyr3835Ter | |
| XM_024450300.1:c.11367C>A (PKD1) | XP_024306068.1:p.Tyr3789Ter | |
| XM_024450301.1:c.9453C>A (PKD1) | XP_024306069.1:p.Tyr3151Ter | |
| NM_000296.4:c.11454C>A (PKD1) | NP_000287.4:p.Tyr3818Ter | |
| NM_001009944.3:c.11457C>A (PKD1) MANE Select | NP_001009944.3:p.Tyr3819Ter |