Linked Data
dbSNP Id:
rs763554433
ExAC:
16:2142567 G / A
gnomAD v2:
16-2142567-G-A
gnomAD v4:
16-2092566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092566G>A , CM000678.2:g.2092566G>A | GRCh38 |
| NC_000016.9:g.2142567G>A , CM000678.1:g.2142567G>A | GRCh37 |
| NC_000016.8:g.2082568G>A | NCBI36 |
| NG_008617.1:g.50655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11183C>T (PKD1) MANE Select | ENSP00000262304.4:p.Ala3728Val | |
| ENST00000262304.8:c.11183C>T (PKD1) | ENSP00000262304.4:p.Ala3728Val | |
| ENST00000423118.5:c.11180C>T (PKD1) | ENSP00000399501.1:p.Ala3727Val | |
| ENST00000485120.1:n.32C>T (PKD1) | ||
| ENST00000487932.5:c.5745C>T (PKD1) | ENSP00000457132.1:n.5745C>T | |
| ENST00000562425.1:c.296C>T (PKD1) | ||
| ENST00000567355.1:n.346C>T (PKD1) | ||
| NM_000296.3:c.11180C>T (PKD1) | NP_000287.3:p.Ala3727Val | |
| NM_001009944.2:c.11183C>T (PKD1) | NP_001009944.2:p.Ala3728Val | |
| XM_005255370.2:c.8138C>T (PKD1) | XP_005255427.1:p.Ala2713Val | |
| XM_011522525.1:c.11261C>T (PKD1) | XP_011520827.1:p.Ala3754Val | |
| XM_011522526.1:c.11258C>T (PKD1) | XP_011520828.1:p.Ala3753Val | |
| XM_011522527.1:c.11243C>T (PKD1) | XP_011520829.1:p.Ala3748Val | |
| XM_011522528.1:c.11237C>T (PKD1) | XP_011520830.1:p.Ala3746Val | |
| XM_011522529.1:c.11234C>T (PKD1) | XP_011520831.1:p.Ala3745Val | |
| XM_011522530.1:c.11207C>T (PKD1) | XP_011520832.1:p.Ala3736Val | |
| XM_011522531.1:c.11189C>T (PKD1) | XP_011520833.1:p.Ala3730Val | |
| XM_011522532.1:c.11135C>T (PKD1) | XP_011520834.1:p.Ala3712Val | |
| XM_011522533.1:c.11054C>T (PKD1) | XP_011520835.1:p.Ala3685Val | |
| XM_011522534.1:c.10997C>T (PKD1) | XP_011520836.1:p.Ala3666Val | |
| XM_011522535.1:c.9083C>T (PKD1) | XP_011520837.1:p.Ala3028Val | |
| XM_011522537.1:c.8261C>T (PKD1) | XP_011520839.1:p.Ala2754Val | |
| XR_932867.1:n.11276C>T (PKD1) | ||
| XR_932868.1:n.11110-378C>T (PKD1) | ||
| XR_932869.1:n.11110-378C>T (PKD1) | ||
| XR_932870.1:n.11136C>T (PKD1) | ||
| XR_933000.1:n.90-323G>A (PKD1-AS1) | ||
| XR_933001.1:n.180-323G>A (PKD1-AS1) | ||
| XR_933002.1:n.89-323G>A (PKD1-AS1) | ||
| XR_933003.1:n.89-323G>A (PKD1-AS1) | ||
| NR_135175.1:n.180-323G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8138C>T (PKD1) | XP_005255427.1:p.Ala2713Val | |
| XM_011522528.3:c.11237C>T (PKD1) | XP_011520830.1:p.Ala3746Val | |
| XM_011522529.2:c.11234C>T (PKD1) | XP_011520831.1:p.Ala3745Val | |
| XM_011522537.2:c.8261C>T (PKD1) | XP_011520839.1:p.Ala2754Val | |
| XM_024450298.1:c.11303C>T (PKD1) | XP_024306066.1:p.Ala3768Val | |
| XM_024450299.1:c.11231C>T (PKD1) | XP_024306067.1:p.Ala3744Val | |
| XM_024450300.1:c.11093C>T (PKD1) | XP_024306068.1:p.Ala3698Val | |
| XM_024450301.1:c.9179C>T (PKD1) | XP_024306069.1:p.Ala3060Val | |
| NM_000296.4:c.11180C>T (PKD1) | NP_000287.4:p.Ala3727Val | |
| NM_001009944.3:c.11183C>T (PKD1) MANE Select | NP_001009944.3:p.Ala3728Val |