Linked Data
dbSNP Id:
rs752335203
ExAC:
16:2142565 G / A
gnomAD v2:
16-2142565-G-A
gnomAD v4:
16-2092564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092564G>A , CM000678.2:g.2092564G>A | GRCh38 |
| NC_000016.9:g.2142565G>A , CM000678.1:g.2142565G>A | GRCh37 |
| NC_000016.8:g.2082566G>A | NCBI36 |
| NG_008617.1:g.50657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11185C>T (PKD1) MANE Select | ENSP00000262304.4:p.His3729Tyr | |
| ENST00000262304.8:c.11185C>T (PKD1) | ENSP00000262304.4:p.His3729Tyr | |
| ENST00000423118.5:c.11182C>T (PKD1) | ENSP00000399501.1:p.His3728Tyr | |
| ENST00000485120.1:n.34C>T (PKD1) | ||
| ENST00000487932.5:c.5747C>T (PKD1) | ENSP00000457132.1:n.5747C>T | |
| ENST00000562425.1:c.298C>T (PKD1) | ||
| ENST00000567355.1:n.348C>T (PKD1) | ||
| NM_000296.3:c.11182C>T (PKD1) | NP_000287.3:p.His3728Tyr | |
| NM_001009944.2:c.11185C>T (PKD1) | NP_001009944.2:p.His3729Tyr | |
| XM_005255370.2:c.8140C>T (PKD1) | XP_005255427.1:p.His2714Tyr | |
| XM_011522525.1:c.11263C>T (PKD1) | XP_011520827.1:p.His3755Tyr | |
| XM_011522526.1:c.11260C>T (PKD1) | XP_011520828.1:p.His3754Tyr | |
| XM_011522527.1:c.11245C>T (PKD1) | XP_011520829.1:p.His3749Tyr | |
| XM_011522528.1:c.11239C>T (PKD1) | XP_011520830.1:p.His3747Tyr | |
| XM_011522529.1:c.11236C>T (PKD1) | XP_011520831.1:p.His3746Tyr | |
| XM_011522530.1:c.11209C>T (PKD1) | XP_011520832.1:p.His3737Tyr | |
| XM_011522531.1:c.11191C>T (PKD1) | XP_011520833.1:p.His3731Tyr | |
| XM_011522532.1:c.11137C>T (PKD1) | XP_011520834.1:p.His3713Tyr | |
| XM_011522533.1:c.11056C>T (PKD1) | XP_011520835.1:p.His3686Tyr | |
| XM_011522534.1:c.10999C>T (PKD1) | XP_011520836.1:p.His3667Tyr | |
| XM_011522535.1:c.9085C>T (PKD1) | XP_011520837.1:p.His3029Tyr | |
| XM_011522537.1:c.8263C>T (PKD1) | XP_011520839.1:p.His2755Tyr | |
| XR_932867.1:n.11278C>T (PKD1) | ||
| XR_932868.1:n.11110-376C>T (PKD1) | ||
| XR_932869.1:n.11110-376C>T (PKD1) | ||
| XR_932870.1:n.11138C>T (PKD1) | ||
| XR_933000.1:n.90-325G>A (PKD1-AS1) | ||
| XR_933001.1:n.180-325G>A (PKD1-AS1) | ||
| XR_933002.1:n.89-325G>A (PKD1-AS1) | ||
| XR_933003.1:n.89-325G>A (PKD1-AS1) | ||
| NR_135175.1:n.180-325G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8140C>T (PKD1) | XP_005255427.1:p.His2714Tyr | |
| XM_011522528.3:c.11239C>T (PKD1) | XP_011520830.1:p.His3747Tyr | |
| XM_011522529.2:c.11236C>T (PKD1) | XP_011520831.1:p.His3746Tyr | |
| XM_011522537.2:c.8263C>T (PKD1) | XP_011520839.1:p.His2755Tyr | |
| XM_024450298.1:c.11305C>T (PKD1) | XP_024306066.1:p.His3769Tyr | |
| XM_024450299.1:c.11233C>T (PKD1) | XP_024306067.1:p.His3745Tyr | |
| XM_024450300.1:c.11095C>T (PKD1) | XP_024306068.1:p.His3699Tyr | |
| XM_024450301.1:c.9181C>T (PKD1) | XP_024306069.1:p.His3061Tyr | |
| NM_000296.4:c.11182C>T (PKD1) | NP_000287.4:p.His3728Tyr | |
| NM_001009944.3:c.11185C>T (PKD1) MANE Select | NP_001009944.3:p.His3729Tyr |