Linked Data
dbSNP Id:
rs114523369
ExAC:
16:2144137 C / T
gnomAD v2:
16-2144137-C-T
gnomAD v3:
16-2094136-C-T
gnomAD v4:
16-2094136-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2094136C>T , CM000678.2:g.2094136C>T | GRCh38 |
| NC_000016.9:g.2144137C>T , CM000678.1:g.2144137C>T | GRCh37 |
| NC_000016.8:g.2084138C>T | NCBI36 |
| NG_008617.1:g.49085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.10574G>A (PKD1) MANE Select | ENSP00000262304.4:p.Gly3525Asp | |
| ENST00000262304.8:c.10574G>A (PKD1) | ENSP00000262304.4:p.Gly3525Asp | |
| ENST00000423118.5:c.10571G>A (PKD1) | ENSP00000399501.1:p.Gly3524Asp | |
| ENST00000472659.1:n.11G>A (PKD1) | ||
| ENST00000487932.5:c.5136G>A (PKD1) | ENSP00000457132.1:n.5136G>A | |
| NM_000296.3:c.10571G>A (PKD1) | NP_000287.3:p.Gly3524Asp | |
| NM_001009944.2:c.10574G>A (PKD1) | NP_001009944.2:p.Gly3525Asp | |
| XM_005255370.2:c.7529G>A (PKD1) | XP_005255427.1:p.Gly2510Asp | |
| XM_011522525.1:c.10652G>A (PKD1) | XP_011520827.1:p.Gly3551Asp | |
| XM_011522526.1:c.10649G>A (PKD1) | XP_011520828.1:p.Gly3550Asp | |
| XM_011522527.1:c.10634G>A (PKD1) | XP_011520829.1:p.Gly3545Asp | |
| XM_011522528.1:c.10628G>A (PKD1) | XP_011520830.1:p.Gly3543Asp | |
| XM_011522529.1:c.10625G>A (PKD1) | XP_011520831.1:p.Gly3542Asp | |
| XM_011522530.1:c.10598G>A (PKD1) | XP_011520832.1:p.Gly3533Asp | |
| XM_011522531.1:c.10580G>A (PKD1) | XP_011520833.1:p.Gly3527Asp | |
| XM_011522532.1:c.10526G>A (PKD1) | XP_011520834.1:p.Gly3509Asp | |
| XM_011522533.1:c.10445G>A (PKD1) | XP_011520835.1:p.Gly3482Asp | |
| XM_011522534.1:c.10388G>A (PKD1) | XP_011520836.1:p.Gly3463Asp | |
| XM_011522535.1:c.8474G>A (PKD1) | XP_011520837.1:p.Gly2825Asp | |
| XM_011522537.1:c.7652G>A (PKD1) | XP_011520839.1:p.Gly2551Asp | |
| XR_932867.1:n.10667G>A (PKD1) | ||
| XR_932868.1:n.10667G>A (PKD1) | ||
| XR_932869.1:n.10667G>A (PKD1) | ||
| XR_932870.1:n.10667G>A (PKD1) | ||
| XR_933000.1:n.214-542C>T (PKD1-AS1) | ||
| XR_933001.1:n.304-585C>T (PKD1-AS1) | ||
| XR_933002.1:n.213-542C>T (PKD1-AS1) | ||
| XR_933003.1:n.213-585C>T (PKD1-AS1) | ||
| NR_135175.1:n.304-585C>T (PKD1-AS1) | ||
| XM_005255370.3:c.7529G>A (PKD1) | XP_005255427.1:p.Gly2510Asp | |
| XM_011522528.3:c.10628G>A (PKD1) | XP_011520830.1:p.Gly3543Asp | |
| XM_011522529.2:c.10625G>A (PKD1) | XP_011520831.1:p.Gly3542Asp | |
| XM_011522537.2:c.7652G>A (PKD1) | XP_011520839.1:p.Gly2551Asp | |
| XM_024450298.1:c.10694G>A (PKD1) | XP_024306066.1:p.Gly3565Asp | |
| XM_024450299.1:c.10622G>A (PKD1) | XP_024306067.1:p.Gly3541Asp | |
| XM_024450300.1:c.10484G>A (PKD1) | XP_024306068.1:p.Gly3495Asp | |
| XM_024450301.1:c.8570G>A (PKD1) | XP_024306069.1:p.Gly2857Asp | |
| NM_000296.4:c.10571G>A (PKD1) | NP_000287.4:p.Gly3524Asp | |
| NM_001009944.3:c.10574G>A (PKD1) MANE Select | NP_001009944.3:p.Gly3525Asp |