Linked Data
dbSNP Id:
rs766223963
ExAC:
16:2142545 G / A
gnomAD v2:
16-2142545-G-A
gnomAD v4:
16-2092544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092544G>A , CM000678.2:g.2092544G>A | GRCh38 |
| NC_000016.9:g.2142545G>A , CM000678.1:g.2142545G>A | GRCh37 |
| NC_000016.8:g.2082546G>A | NCBI36 |
| NG_008617.1:g.50677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11205C>T (PKD1) MANE Select | ENSP00000262304.4:p.Val3735= | |
| ENST00000262304.8:c.11205C>T (PKD1) | ENSP00000262304.4:p.Val3735= | |
| ENST00000423118.5:c.11202C>T (PKD1) | ENSP00000399501.1:p.Val3734= | |
| ENST00000485120.1:n.54C>T (PKD1) | ||
| ENST00000487932.5:c.5767C>T (PKD1) | ENSP00000457132.1:n.5767C>T | |
| ENST00000562425.1:c.318C>T (PKD1) | ||
| ENST00000567355.1:n.368C>T (PKD1) | ||
| NM_000296.3:c.11202C>T (PKD1) | NP_000287.3:p.Val3734= | |
| NM_001009944.2:c.11205C>T (PKD1) | NP_001009944.2:p.Val3735= | |
| XM_005255370.2:c.8160C>T (PKD1) | XP_005255427.1:p.Val2720= | |
| XM_011522525.1:c.11283C>T (PKD1) | XP_011520827.1:p.Val3761= | |
| XM_011522526.1:c.11280C>T (PKD1) | XP_011520828.1:p.Val3760= | |
| XM_011522527.1:c.11265C>T (PKD1) | XP_011520829.1:p.Val3755= | |
| XM_011522528.1:c.11259C>T (PKD1) | XP_011520830.1:p.Val3753= | |
| XM_011522529.1:c.11256C>T (PKD1) | XP_011520831.1:p.Val3752= | |
| XM_011522530.1:c.11229C>T (PKD1) | XP_011520832.1:p.Val3743= | |
| XM_011522531.1:c.11211C>T (PKD1) | XP_011520833.1:p.Val3737= | |
| XM_011522532.1:c.11157C>T (PKD1) | XP_011520834.1:p.Val3719= | |
| XM_011522533.1:c.11076C>T (PKD1) | XP_011520835.1:p.Val3692= | |
| XM_011522534.1:c.11019C>T (PKD1) | XP_011520836.1:p.Val3673= | |
| XM_011522535.1:c.9105C>T (PKD1) | XP_011520837.1:p.Val3035= | |
| XM_011522537.1:c.8283C>T (PKD1) | XP_011520839.1:p.Val2761= | |
| XR_932867.1:n.11298C>T (PKD1) | ||
| XR_932868.1:n.11110-356C>T (PKD1) | ||
| XR_932869.1:n.11110-356C>T (PKD1) | ||
| XR_932870.1:n.11158C>T (PKD1) | ||
| XR_933000.1:n.90-345G>A (PKD1-AS1) | ||
| XR_933001.1:n.180-345G>A (PKD1-AS1) | ||
| XR_933002.1:n.89-345G>A (PKD1-AS1) | ||
| XR_933003.1:n.89-345G>A (PKD1-AS1) | ||
| NR_135175.1:n.180-345G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8160C>T (PKD1) | XP_005255427.1:p.Val2720= | |
| XM_011522528.3:c.11259C>T (PKD1) | XP_011520830.1:p.Val3753= | |
| XM_011522529.2:c.11256C>T (PKD1) | XP_011520831.1:p.Val3752= | |
| XM_011522537.2:c.8283C>T (PKD1) | XP_011520839.1:p.Val2761= | |
| XM_024450298.1:c.11325C>T (PKD1) | XP_024306066.1:p.Val3775= | |
| XM_024450299.1:c.11253C>T (PKD1) | XP_024306067.1:p.Val3751= | |
| XM_024450300.1:c.11115C>T (PKD1) | XP_024306068.1:p.Val3705= | |
| XM_024450301.1:c.9201C>T (PKD1) | XP_024306069.1:p.Val3067= | |
| NM_000296.4:c.11202C>T (PKD1) | NP_000287.4:p.Val3734= | |
| NM_001009944.3:c.11205C>T (PKD1) MANE Select | NP_001009944.3:p.Val3735= |