Linked Data
dbSNP Id:
rs748316668
ExAC:
16:2142622 C / A
gnomAD v2:
16-2142622-C-A
gnomAD v3:
16-2092621-C-A
gnomAD v4:
16-2092621-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092621C>A , CM000678.2:g.2092621C>A | GRCh38 |
| NC_000016.9:g.2142622C>A , CM000678.1:g.2142622C>A | GRCh37 |
| NC_000016.8:g.2082623C>A | NCBI36 |
| NG_008617.1:g.50600G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11157-29G>T (PKD1) MANE Select | ENSP00000262304.4:n.11157-29G>T | |
| ENST00000262304.8:c.11157-29G>T (PKD1) | ENSP00000262304.4:n.11157-29G>T | |
| ENST00000423118.5:c.11154-29G>T (PKD1) | ENSP00000399501.1:n.11154-29G>T | |
| ENST00000487932.5:c.5719-29G>T (PKD1) | ENSP00000457132.1:n.5719-29G>T | |
| ENST00000562425.1:c.270-29G>T (PKD1) | ||
| ENST00000567355.1:n.291G>T (PKD1) | ||
| NM_000296.3:c.11154-29G>T (PKD1) | NP_000287.3:n.11154-29G>T | |
| NM_001009944.2:c.11157-29G>T (PKD1) | NP_001009944.2:n.11157-29G>T | |
| XM_005255370.2:c.8112-29G>T (PKD1) | XP_005255427.1:n.8112-29G>T | |
| XM_011522525.1:c.11235-29G>T (PKD1) | XP_011520827.1:n.11235-29G>T | |
| XM_011522526.1:c.11232-29G>T (PKD1) | XP_011520828.1:n.11232-29G>T | |
| XM_011522527.1:c.11217-29G>T (PKD1) | XP_011520829.1:n.11217-29G>T | |
| XM_011522528.1:c.11211-29G>T (PKD1) | XP_011520830.1:n.11211-29G>T | |
| XM_011522529.1:c.11208-29G>T (PKD1) | XP_011520831.1:n.11208-29G>T | |
| XM_011522530.1:c.11181-29G>T (PKD1) | XP_011520832.1:n.11181-29G>T | |
| XM_011522531.1:c.11163-29G>T (PKD1) | XP_011520833.1:n.11163-29G>T | |
| XM_011522532.1:c.11109-29G>T (PKD1) | XP_011520834.1:n.11109-29G>T | |
| XM_011522533.1:c.11028-29G>T (PKD1) | XP_011520835.1:n.11028-29G>T | |
| XM_011522534.1:c.10971-29G>T (PKD1) | XP_011520836.1:n.10971-29G>T | |
| XM_011522535.1:c.9057-29G>T (PKD1) | XP_011520837.1:n.9057-29G>T | |
| XM_011522537.1:c.8235-29G>T (PKD1) | XP_011520839.1:n.8235-29G>T | |
| XR_932867.1:n.11250-29G>T (PKD1) | ||
| XR_932868.1:n.11110-433G>T (PKD1) | ||
| XR_932869.1:n.11110-433G>T (PKD1) | ||
| XR_932870.1:n.11110-29G>T (PKD1) | ||
| XR_933000.1:n.90-268C>A (PKD1-AS1) | ||
| XR_933001.1:n.180-268C>A (PKD1-AS1) | ||
| XR_933002.1:n.89-268C>A (PKD1-AS1) | ||
| XR_933003.1:n.89-268C>A (PKD1-AS1) | ||
| NR_135175.1:n.180-268C>A (PKD1-AS1) | ||
| XM_005255370.3:c.8112-29G>T (PKD1) | XP_005255427.1:n.8112-29G>T | |
| XM_011522528.3:c.11211-29G>T (PKD1) | XP_011520830.1:n.11211-29G>T | |
| XM_011522529.2:c.11208-29G>T (PKD1) | XP_011520831.1:n.11208-29G>T | |
| XM_011522537.2:c.8235-29G>T (PKD1) | XP_011520839.1:n.8235-29G>T | |
| XM_024450298.1:c.11277-29G>T (PKD1) | XP_024306066.1:n.11277-29G>T | |
| XM_024450299.1:c.11205-29G>T (PKD1) | XP_024306067.1:n.11205-29G>T | |
| XM_024450300.1:c.11067-29G>T (PKD1) | XP_024306068.1:n.11067-29G>T | |
| XM_024450301.1:c.9153-29G>T (PKD1) | XP_024306069.1:n.9153-29G>T | |
| NM_000296.4:c.11154-29G>T (PKD1) | NP_000287.4:n.11154-29G>T | |
| NM_001009944.3:c.11157-29G>T (PKD1) MANE Select | NP_001009944.3:n.11157-29G>T |