Linked Data
dbSNP Id:
rs1356378120
gnomAD v2:
16-2142502-G-T
gnomAD v3:
16-2092501-G-T
gnomAD v4:
16-2092501-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092501G>T , CM000678.2:g.2092501G>T | GRCh38 |
| NC_000016.9:g.2142502G>T , CM000678.1:g.2142502G>T | GRCh37 |
| NC_000016.8:g.2082503G>T | NCBI36 |
| NG_008617.1:g.50720C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11248C>A (PKD1) MANE Select | ENSP00000262304.4:p.Arg3750= | |
| ENST00000262304.8:c.11248C>A (PKD1) | ENSP00000262304.4:p.Arg3750= | |
| ENST00000423118.5:c.11245C>A (PKD1) | ENSP00000399501.1:p.Arg3749= | |
| ENST00000485120.1:n.97C>A (PKD1) | ||
| ENST00000487932.5:c.5810C>A (PKD1) | ENSP00000457132.1:n.5810C>A | |
| ENST00000562425.1:c.361C>A (PKD1) | ||
| ENST00000567355.1:n.411C>A (PKD1) | ||
| NM_000296.3:c.11245C>A (PKD1) | NP_000287.3:p.Arg3749= | |
| NM_001009944.2:c.11248C>A (PKD1) | NP_001009944.2:p.Arg3750= | |
| XM_005255370.2:c.8203C>A (PKD1) | XP_005255427.1:p.Arg2735= | |
| XM_011522525.1:c.11326C>A (PKD1) | XP_011520827.1:p.Arg3776= | |
| XM_011522526.1:c.11323C>A (PKD1) | XP_011520828.1:p.Arg3775= | |
| XM_011522527.1:c.11308C>A (PKD1) | XP_011520829.1:p.Arg3770= | |
| XM_011522528.1:c.11302C>A (PKD1) | XP_011520830.1:p.Arg3768= | |
| XM_011522529.1:c.11299C>A (PKD1) | XP_011520831.1:p.Arg3767= | |
| XM_011522530.1:c.11272C>A (PKD1) | XP_011520832.1:p.Arg3758= | |
| XM_011522531.1:c.11254C>A (PKD1) | XP_011520833.1:p.Arg3752= | |
| XM_011522532.1:c.11200C>A (PKD1) | XP_011520834.1:p.Arg3734= | |
| XM_011522533.1:c.11119C>A (PKD1) | XP_011520835.1:p.Arg3707= | |
| XM_011522534.1:c.11062C>A (PKD1) | XP_011520836.1:p.Arg3688= | |
| XM_011522535.1:c.9148C>A (PKD1) | XP_011520837.1:p.Arg3050= | |
| XM_011522537.1:c.8326C>A (PKD1) | XP_011520839.1:p.Arg2776= | |
| XR_932867.1:n.11341C>A (PKD1) | ||
| XR_932868.1:n.11110-313C>A (PKD1) | ||
| XR_932869.1:n.11110-313C>A (PKD1) | ||
| XR_932870.1:n.11201C>A (PKD1) | ||
| XR_933000.1:n.90-388G>T (PKD1-AS1) | ||
| XR_933001.1:n.180-388G>T (PKD1-AS1) | ||
| XR_933002.1:n.89-388G>T (PKD1-AS1) | ||
| XR_933003.1:n.89-388G>T (PKD1-AS1) | ||
| NR_135175.1:n.180-388G>T (PKD1-AS1) | ||
| XM_005255370.3:c.8203C>A (PKD1) | XP_005255427.1:p.Arg2735= | |
| XM_011522528.3:c.11302C>A (PKD1) | XP_011520830.1:p.Arg3768= | |
| XM_011522529.2:c.11299C>A (PKD1) | XP_011520831.1:p.Arg3767= | |
| XM_011522537.2:c.8326C>A (PKD1) | XP_011520839.1:p.Arg2776= | |
| XM_024450298.1:c.11368C>A (PKD1) | XP_024306066.1:p.Arg3790= | |
| XM_024450299.1:c.11296C>A (PKD1) | XP_024306067.1:p.Arg3766= | |
| XM_024450300.1:c.11158C>A (PKD1) | XP_024306068.1:p.Arg3720= | |
| XM_024450301.1:c.9244C>A (PKD1) | XP_024306069.1:p.Arg3082= | |
| NM_000296.4:c.11245C>A (PKD1) | NP_000287.4:p.Arg3749= | |
| NM_001009944.3:c.11248C>A (PKD1) MANE Select | NP_001009944.3:p.Arg3750= |