Linked Data
ClinVar Variation Id:
1338994
ClinVar RCV Id:
RCV001823448
dbSNP Id:
rs2151701845
COSMIC:
COSM4647889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092488A>G , CM000678.2:g.2092488A>G | GRCh38 |
| NC_000016.9:g.2142489A>G , CM000678.1:g.2142489A>G | GRCh37 |
| NC_000016.8:g.2082490A>G | NCBI36 |
| NG_008617.1:g.50733T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.11261T>C (PKD1) MANE Select | ENSP00000262304.4:p.Leu3754Pro | |
| ENST00000262304.8:c.11261T>C (PKD1) | ENSP00000262304.4:p.Leu3754Pro | |
| ENST00000423118.5:c.11258T>C (PKD1) | ENSP00000399501.1:p.Leu3753Pro | |
| ENST00000485120.1:n.110T>C (PKD1) | ||
| ENST00000487932.5:c.5823T>C (PKD1) | ENSP00000457132.1:n.5823T>C | |
| ENST00000562425.1:c.374T>C (PKD1) | ||
| ENST00000567355.1:n.424T>C (PKD1) | ||
| NM_000296.3:c.11258T>C (PKD1) | NP_000287.3:p.Leu3753Pro | |
| NM_001009944.2:c.11261T>C (PKD1) | NP_001009944.2:p.Leu3754Pro | |
| XM_005255370.2:c.8216T>C (PKD1) | XP_005255427.1:p.Leu2739Pro | |
| XM_011522525.1:c.11339T>C (PKD1) | XP_011520827.1:p.Leu3780Pro | |
| XM_011522526.1:c.11336T>C (PKD1) | XP_011520828.1:p.Leu3779Pro | |
| XM_011522527.1:c.11321T>C (PKD1) | XP_011520829.1:p.Leu3774Pro | |
| XM_011522528.1:c.11315T>C (PKD1) | XP_011520830.1:p.Leu3772Pro | |
| XM_011522529.1:c.11312T>C (PKD1) | XP_011520831.1:p.Leu3771Pro | |
| XM_011522530.1:c.11285T>C (PKD1) | XP_011520832.1:p.Leu3762Pro | |
| XM_011522531.1:c.11267T>C (PKD1) | XP_011520833.1:p.Leu3756Pro | |
| XM_011522532.1:c.11213T>C (PKD1) | XP_011520834.1:p.Leu3738Pro | |
| XM_011522533.1:c.11132T>C (PKD1) | XP_011520835.1:p.Leu3711Pro | |
| XM_011522534.1:c.11075T>C (PKD1) | XP_011520836.1:p.Leu3692Pro | |
| XM_011522535.1:c.9161T>C (PKD1) | XP_011520837.1:p.Leu3054Pro | |
| XM_011522537.1:c.8339T>C (PKD1) | XP_011520839.1:p.Leu2780Pro | |
| XR_932867.1:n.11354T>C (PKD1) | ||
| XR_932868.1:n.11110-300T>C (PKD1) | ||
| XR_932869.1:n.11110-300T>C (PKD1) | ||
| XR_932870.1:n.11214T>C (PKD1) | ||
| XR_933000.1:n.90-401A>G (PKD1-AS1) | ||
| XR_933001.1:n.180-401A>G (PKD1-AS1) | ||
| XR_933002.1:n.89-401A>G (PKD1-AS1) | ||
| XR_933003.1:n.89-401A>G (PKD1-AS1) | ||
| NR_135175.1:n.180-401A>G (PKD1-AS1) | ||
| XM_005255370.3:c.8216T>C (PKD1) | XP_005255427.1:p.Leu2739Pro | |
| XM_011522528.3:c.11315T>C (PKD1) | XP_011520830.1:p.Leu3772Pro | |
| XM_011522529.2:c.11312T>C (PKD1) | XP_011520831.1:p.Leu3771Pro | |
| XM_011522537.2:c.8339T>C (PKD1) | XP_011520839.1:p.Leu2780Pro | |
| XM_024450298.1:c.11381T>C (PKD1) | XP_024306066.1:p.Leu3794Pro | |
| XM_024450299.1:c.11309T>C (PKD1) | XP_024306067.1:p.Leu3770Pro | |
| XM_024450300.1:c.11171T>C (PKD1) | XP_024306068.1:p.Leu3724Pro | |
| XM_024450301.1:c.9257T>C (PKD1) | XP_024306069.1:p.Leu3086Pro | |
| NM_000296.4:c.11258T>C (PKD1) | NP_000287.4:p.Leu3753Pro | |
| NM_001009944.3:c.11261T>C (PKD1) MANE Select | NP_001009944.3:p.Leu3754Pro |