Linked Data
ClinVar Variation Id:
8199
dbSNP Id:
rs199476096
gnomAD v4:
16-2091806-G-A
PubMed:
PMID:8554072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2091806G>A , CM000678.2:g.2091806G>A | GRCh38 |
| NC_000016.9:g.2141807G>A , CM000678.1:g.2141807G>A | GRCh37 |
| NC_000016.8:g.2081808G>A | NCBI36 |
| NG_008617.1:g.51415C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.11512C>T (PKD1) MANE Select | ENSP00000262304.4:p.Gln3838Ter | |
| ENST00000262304.8:c.11512C>T (PKD1) | ENSP00000262304.4:p.Gln3838Ter | |
| ENST00000423118.5:c.11509C>T (PKD1) | ENSP00000399501.1:p.Gln3837Ter | |
| ENST00000485120.1:n.501C>T (PKD1) | ||
| ENST00000487932.5:c.6074C>T (PKD1) | ENSP00000457132.1:n.6074C>T | |
| ENST00000561668.5:c.173C>T (PKD1) | ||
| ENST00000564313.1:n.208C>T (PKD1) | ||
| NM_000296.3:c.11509C>T (PKD1) | NP_000287.3:p.Gln3837Ter | |
| NM_001009944.2:c.11512C>T (PKD1) | NP_001009944.2:p.Gln3838Ter | |
| XM_005255370.2:c.8467C>T (PKD1) | XP_005255427.1:p.Gln2823Ter | |
| XM_011522525.1:c.11590C>T (PKD1) | XP_011520827.1:p.Gln3864Ter | |
| XM_011522526.1:c.11587C>T (PKD1) | XP_011520828.1:p.Gln3863Ter | |
| XM_011522527.1:c.11572C>T (PKD1) | XP_011520829.1:p.Gln3858Ter | |
| XM_011522528.1:c.11566C>T (PKD1) | XP_011520830.1:p.Gln3856Ter | |
| XM_011522529.1:c.11563C>T (PKD1) | XP_011520831.1:p.Gln3855Ter | |
| XM_011522530.1:c.11536C>T (PKD1) | XP_011520832.1:p.Gln3846Ter | |
| XM_011522531.1:c.11518C>T (PKD1) | XP_011520833.1:p.Gln3840Ter | |
| XM_011522532.1:c.11464C>T (PKD1) | XP_011520834.1:p.Gln3822Ter | |
| XM_011522533.1:c.11383C>T (PKD1) | XP_011520835.1:p.Gln3795Ter | |
| XM_011522534.1:c.11326C>T (PKD1) | XP_011520836.1:p.Gln3776Ter | |
| XM_011522535.1:c.9412C>T (PKD1) | XP_011520837.1:p.Gln3138Ter | |
| XM_011522537.1:c.8590C>T (PKD1) | XP_011520839.1:p.Gln2864Ter | |
| XR_932867.1:n.11605C>T (PKD1) | ||
| XR_932868.1:n.11352C>T (PKD1) | ||
| XR_932869.1:n.11352C>T (PKD1) | ||
| XR_933000.1:n.89+192G>A (PKD1-AS1) | ||
| XR_933001.1:n.179+192G>A (PKD1-AS1) | ||
| XR_933002.1:n.88+198G>A (PKD1-AS1) | ||
| XR_933003.1:n.88+198G>A (PKD1-AS1) | ||
| NR_135175.1:n.179+192G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8467C>T (PKD1) | XP_005255427.1:p.Gln2823Ter | |
| XM_011522528.3:c.11566C>T (PKD1) | XP_011520830.1:p.Gln3856Ter | |
| XM_011522529.2:c.11563C>T (PKD1) | XP_011520831.1:p.Gln3855Ter | |
| XM_011522537.2:c.8590C>T (PKD1) | XP_011520839.1:p.Gln2864Ter | |
| XM_024450298.1:c.11632C>T (PKD1) | XP_024306066.1:p.Gln3878Ter | |
| XM_024450299.1:c.11560C>T (PKD1) | XP_024306067.1:p.Gln3854Ter | |
| XM_024450300.1:c.11422C>T (PKD1) | XP_024306068.1:p.Gln3808Ter | |
| XM_024450301.1:c.9508C>T (PKD1) | XP_024306069.1:p.Gln3170Ter | |
| NM_000296.4:c.11509C>T (PKD1) | NP_000287.4:p.Gln3837Ter | |
| NM_001009944.3:c.11512C>T (PKD1) MANE Select | NP_001009944.3:p.Gln3838Ter |