Linked Data
dbSNP Id:
rs2091738039
gnomAD v4:
16-2094138-T-C
MyVariant Identifiers:
chr16:g.2144139T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094138T>C , CM000678.2:g.2094138T>C | GRCh38 |
| NC_000016.9:g.2144139T>C , CM000678.1:g.2144139T>C | GRCh37 |
| NC_000016.8:g.2084140T>C | NCBI36 |
| NG_008617.1:g.49083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10572A>G (PKD1) MANE Select | ENSP00000262304.4:p.Pro3524= | |
| ENST00000262304.8:c.10572A>G (PKD1) | ENSP00000262304.4:p.Pro3524= | |
| ENST00000423118.5:c.10569A>G (PKD1) | ENSP00000399501.1:p.Pro3523= | |
| ENST00000472659.1:n.9A>G (PKD1) | ||
| ENST00000487932.5:c.5134A>G (PKD1) | ENSP00000457132.1:n.5134A>G | |
| NM_000296.3:c.10569A>G (PKD1) | NP_000287.3:p.Pro3523= | |
| NM_001009944.2:c.10572A>G (PKD1) | NP_001009944.2:p.Pro3524= | |
| XM_005255370.2:c.7527A>G (PKD1) | XP_005255427.1:p.Pro2509= | |
| XM_011522525.1:c.10650A>G (PKD1) | XP_011520827.1:p.Pro3550= | |
| XM_011522526.1:c.10647A>G (PKD1) | XP_011520828.1:p.Pro3549= | |
| XM_011522527.1:c.10632A>G (PKD1) | XP_011520829.1:p.Pro3544= | |
| XM_011522528.1:c.10626A>G (PKD1) | XP_011520830.1:p.Pro3542= | |
| XM_011522529.1:c.10623A>G (PKD1) | XP_011520831.1:p.Pro3541= | |
| XM_011522530.1:c.10596A>G (PKD1) | XP_011520832.1:p.Pro3532= | |
| XM_011522531.1:c.10578A>G (PKD1) | XP_011520833.1:p.Pro3526= | |
| XM_011522532.1:c.10524A>G (PKD1) | XP_011520834.1:p.Pro3508= | |
| XM_011522533.1:c.10443A>G (PKD1) | XP_011520835.1:p.Pro3481= | |
| XM_011522534.1:c.10386A>G (PKD1) | XP_011520836.1:p.Pro3462= | |
| XM_011522535.1:c.8472A>G (PKD1) | XP_011520837.1:p.Pro2824= | |
| XM_011522537.1:c.7650A>G (PKD1) | XP_011520839.1:p.Pro2550= | |
| XR_932867.1:n.10665A>G (PKD1) | ||
| XR_932868.1:n.10665A>G (PKD1) | ||
| XR_932869.1:n.10665A>G (PKD1) | ||
| XR_932870.1:n.10665A>G (PKD1) | ||
| XR_933000.1:n.214-540T>C (PKD1-AS1) | ||
| XR_933001.1:n.304-583T>C (PKD1-AS1) | ||
| XR_933002.1:n.213-540T>C (PKD1-AS1) | ||
| XR_933003.1:n.213-583T>C (PKD1-AS1) | ||
| NR_135175.1:n.304-583T>C (PKD1-AS1) | ||
| XM_005255370.3:c.7527A>G (PKD1) | XP_005255427.1:p.Pro2509= | |
| XM_011522528.3:c.10626A>G (PKD1) | XP_011520830.1:p.Pro3542= | |
| XM_011522529.2:c.10623A>G (PKD1) | XP_011520831.1:p.Pro3541= | |
| XM_011522537.2:c.7650A>G (PKD1) | XP_011520839.1:p.Pro2550= | |
| XM_024450298.1:c.10692A>G (PKD1) | XP_024306066.1:p.Pro3564= | |
| XM_024450299.1:c.10620A>G (PKD1) | XP_024306067.1:p.Pro3540= | |
| XM_024450300.1:c.10482A>G (PKD1) | XP_024306068.1:p.Pro3494= | |
| XM_024450301.1:c.8568A>G (PKD1) | XP_024306069.1:p.Pro2856= | |
| NM_000296.4:c.10569A>G (PKD1) | NP_000287.4:p.Pro3523= | |
| NM_001009944.3:c.10572A>G (PKD1) MANE Select | NP_001009944.3:p.Pro3524= |