Linked Data
ClinVar Variation Id:
1013090
ClinVar RCV Id:
RCV001311421
dbSNP Id:
rs2091642103
gnomAD v4:
16-2092486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092486G>A , CM000678.2:g.2092486G>A | GRCh38 |
| NC_000016.9:g.2142487G>A , CM000678.1:g.2142487G>A | GRCh37 |
| NC_000016.8:g.2082488G>A | NCBI36 |
| NG_008617.1:g.50735C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.11263C>T (PKD1) MANE Select | ENSP00000262304.4:p.Gln3755Ter | |
| ENST00000262304.8:c.11263C>T (PKD1) | ENSP00000262304.4:p.Gln3755Ter | |
| ENST00000423118.5:c.11260C>T (PKD1) | ENSP00000399501.1:p.Gln3754Ter | |
| ENST00000485120.1:n.112C>T (PKD1) | ||
| ENST00000487932.5:c.5825C>T (PKD1) | ENSP00000457132.1:n.5825C>T | |
| ENST00000562425.1:c.376C>T (PKD1) | ||
| ENST00000567355.1:n.426C>T (PKD1) | ||
| NM_000296.3:c.11260C>T (PKD1) | NP_000287.3:p.Gln3754Ter | |
| NM_001009944.2:c.11263C>T (PKD1) | NP_001009944.2:p.Gln3755Ter | |
| XM_005255370.2:c.8218C>T (PKD1) | XP_005255427.1:p.Gln2740Ter | |
| XM_011522525.1:c.11341C>T (PKD1) | XP_011520827.1:p.Gln3781Ter | |
| XM_011522526.1:c.11338C>T (PKD1) | XP_011520828.1:p.Gln3780Ter | |
| XM_011522527.1:c.11323C>T (PKD1) | XP_011520829.1:p.Gln3775Ter | |
| XM_011522528.1:c.11317C>T (PKD1) | XP_011520830.1:p.Gln3773Ter | |
| XM_011522529.1:c.11314C>T (PKD1) | XP_011520831.1:p.Gln3772Ter | |
| XM_011522530.1:c.11287C>T (PKD1) | XP_011520832.1:p.Gln3763Ter | |
| XM_011522531.1:c.11269C>T (PKD1) | XP_011520833.1:p.Gln3757Ter | |
| XM_011522532.1:c.11215C>T (PKD1) | XP_011520834.1:p.Gln3739Ter | |
| XM_011522533.1:c.11134C>T (PKD1) | XP_011520835.1:p.Gln3712Ter | |
| XM_011522534.1:c.11077C>T (PKD1) | XP_011520836.1:p.Gln3693Ter | |
| XM_011522535.1:c.9163C>T (PKD1) | XP_011520837.1:p.Gln3055Ter | |
| XM_011522537.1:c.8341C>T (PKD1) | XP_011520839.1:p.Gln2781Ter | |
| XR_932867.1:n.11356C>T (PKD1) | ||
| XR_932868.1:n.11110-298C>T (PKD1) | ||
| XR_932869.1:n.11110-298C>T (PKD1) | ||
| XR_932870.1:n.11216C>T (PKD1) | ||
| XR_933000.1:n.90-403G>A (PKD1-AS1) | ||
| XR_933001.1:n.180-403G>A (PKD1-AS1) | ||
| XR_933002.1:n.89-403G>A (PKD1-AS1) | ||
| XR_933003.1:n.89-403G>A (PKD1-AS1) | ||
| NR_135175.1:n.180-403G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8218C>T (PKD1) | XP_005255427.1:p.Gln2740Ter | |
| XM_011522528.3:c.11317C>T (PKD1) | XP_011520830.1:p.Gln3773Ter | |
| XM_011522529.2:c.11314C>T (PKD1) | XP_011520831.1:p.Gln3772Ter | |
| XM_011522537.2:c.8341C>T (PKD1) | XP_011520839.1:p.Gln2781Ter | |
| XM_024450298.1:c.11383C>T (PKD1) | XP_024306066.1:p.Gln3795Ter | |
| XM_024450299.1:c.11311C>T (PKD1) | XP_024306067.1:p.Gln3771Ter | |
| XM_024450300.1:c.11173C>T (PKD1) | XP_024306068.1:p.Gln3725Ter | |
| XM_024450301.1:c.9259C>T (PKD1) | XP_024306069.1:p.Gln3087Ter | |
| NM_000296.4:c.11260C>T (PKD1) | NP_000287.4:p.Gln3754Ter | |
| NM_001009944.3:c.11263C>T (PKD1) MANE Select | NP_001009944.3:p.Gln3755Ter |