Linked Data
ClinVar Variation Id:
256891
dbSNP Id:
rs45478794
ExAC:
16:2144182 G / A
gnomAD v2:
16-2144182-G-A
gnomAD v3:
16-2094181-G-A
gnomAD v4:
16-2094181-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094181G>A , CM000678.2:g.2094181G>A | GRCh38 |
| NC_000016.9:g.2144182G>A , CM000678.1:g.2144182G>A | GRCh37 |
| NC_000016.8:g.2084183G>A | NCBI36 |
| NG_008617.1:g.49040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10529C>T (PKD1) MANE Select | ENSP00000262304.4:p.Thr3510Met | |
| ENST00000262304.8:c.10529C>T (PKD1) | ENSP00000262304.4:p.Thr3510Met | |
| ENST00000423118.5:c.10526C>T (PKD1) | ENSP00000399501.1:p.Thr3509Met | |
| ENST00000487932.5:c.5091C>T (PKD1) | ENSP00000457132.1:n.5091C>T | |
| NM_000296.3:c.10526C>T (PKD1) | NP_000287.3:p.Thr3509Met | |
| NM_001009944.2:c.10529C>T (PKD1) | NP_001009944.2:p.Thr3510Met | |
| XM_005255370.2:c.7484C>T (PKD1) | XP_005255427.1:p.Thr2495Met | |
| XM_011522525.1:c.10607C>T (PKD1) | XP_011520827.1:p.Thr3536Met | |
| XM_011522526.1:c.10604C>T (PKD1) | XP_011520828.1:p.Thr3535Met | |
| XM_011522527.1:c.10589C>T (PKD1) | XP_011520829.1:p.Thr3530Met | |
| XM_011522528.1:c.10583C>T (PKD1) | XP_011520830.1:p.Thr3528Met | |
| XM_011522529.1:c.10580C>T (PKD1) | XP_011520831.1:p.Thr3527Met | |
| XM_011522530.1:c.10553C>T (PKD1) | XP_011520832.1:p.Thr3518Met | |
| XM_011522531.1:c.10535C>T (PKD1) | XP_011520833.1:p.Thr3512Met | |
| XM_011522532.1:c.10481C>T (PKD1) | XP_011520834.1:p.Thr3494Met | |
| XM_011522533.1:c.10400C>T (PKD1) | XP_011520835.1:p.Thr3467Met | |
| XM_011522534.1:c.10343C>T (PKD1) | XP_011520836.1:p.Thr3448Met | |
| XM_011522535.1:c.8429C>T (PKD1) | XP_011520837.1:p.Thr2810Met | |
| XM_011522537.1:c.7607C>T (PKD1) | XP_011520839.1:p.Thr2536Met | |
| XR_932867.1:n.10622C>T (PKD1) | ||
| XR_932868.1:n.10622C>T (PKD1) | ||
| XR_932869.1:n.10622C>T (PKD1) | ||
| XR_932870.1:n.10622C>T (PKD1) | ||
| XR_933000.1:n.214-497G>A (PKD1-AS1) | ||
| XR_933001.1:n.304-540G>A (PKD1-AS1) | ||
| XR_933002.1:n.213-497G>A (PKD1-AS1) | ||
| XR_933003.1:n.213-540G>A (PKD1-AS1) | ||
| NR_135175.1:n.304-540G>A (PKD1-AS1) | ||
| XM_005255370.3:c.7484C>T (PKD1) | XP_005255427.1:p.Thr2495Met | |
| XM_011522528.3:c.10583C>T (PKD1) | XP_011520830.1:p.Thr3528Met | |
| XM_011522529.2:c.10580C>T (PKD1) | XP_011520831.1:p.Thr3527Met | |
| XM_011522537.2:c.7607C>T (PKD1) | XP_011520839.1:p.Thr2536Met | |
| XM_024450298.1:c.10649C>T (PKD1) | XP_024306066.1:p.Thr3550Met | |
| XM_024450299.1:c.10577C>T (PKD1) | XP_024306067.1:p.Thr3526Met | |
| XM_024450300.1:c.10439C>T (PKD1) | XP_024306068.1:p.Thr3480Met | |
| XM_024450301.1:c.8525C>T (PKD1) | XP_024306069.1:p.Thr2842Met | |
| NM_000296.4:c.10526C>T (PKD1) | NP_000287.4:p.Thr3509Met | |
| NM_001009944.3:c.10529C>T (PKD1) MANE Select | NP_001009944.3:p.Thr3510Met |