Linked Data
dbSNP Id:
rs773289901
ExAC:
16:2142541 C / T
gnomAD v2:
16-2142541-C-T
gnomAD v3:
16-2092540-C-T
gnomAD v4:
16-2092540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092540C>T , CM000678.2:g.2092540C>T | GRCh38 |
| NC_000016.9:g.2142541C>T , CM000678.1:g.2142541C>T | GRCh37 |
| NC_000016.8:g.2082542C>T | NCBI36 |
| NG_008617.1:g.50681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11209G>A (PKD1) MANE Select | ENSP00000262304.4:p.Gly3737Arg | |
| ENST00000262304.8:c.11209G>A (PKD1) | ENSP00000262304.4:p.Gly3737Arg | |
| ENST00000423118.5:c.11206G>A (PKD1) | ENSP00000399501.1:p.Gly3736Arg | |
| ENST00000485120.1:n.58G>A (PKD1) | ||
| ENST00000487932.5:c.5771G>A (PKD1) | ENSP00000457132.1:n.5771G>A | |
| ENST00000562425.1:c.322G>A (PKD1) | ||
| ENST00000567355.1:n.372G>A (PKD1) | ||
| NM_000296.3:c.11206G>A (PKD1) | NP_000287.3:p.Gly3736Arg | |
| NM_001009944.2:c.11209G>A (PKD1) | NP_001009944.2:p.Gly3737Arg | |
| XM_005255370.2:c.8164G>A (PKD1) | XP_005255427.1:p.Gly2722Arg | |
| XM_011522525.1:c.11287G>A (PKD1) | XP_011520827.1:p.Gly3763Arg | |
| XM_011522526.1:c.11284G>A (PKD1) | XP_011520828.1:p.Gly3762Arg | |
| XM_011522527.1:c.11269G>A (PKD1) | XP_011520829.1:p.Gly3757Arg | |
| XM_011522528.1:c.11263G>A (PKD1) | XP_011520830.1:p.Gly3755Arg | |
| XM_011522529.1:c.11260G>A (PKD1) | XP_011520831.1:p.Gly3754Arg | |
| XM_011522530.1:c.11233G>A (PKD1) | XP_011520832.1:p.Gly3745Arg | |
| XM_011522531.1:c.11215G>A (PKD1) | XP_011520833.1:p.Gly3739Arg | |
| XM_011522532.1:c.11161G>A (PKD1) | XP_011520834.1:p.Gly3721Arg | |
| XM_011522533.1:c.11080G>A (PKD1) | XP_011520835.1:p.Gly3694Arg | |
| XM_011522534.1:c.11023G>A (PKD1) | XP_011520836.1:p.Gly3675Arg | |
| XM_011522535.1:c.9109G>A (PKD1) | XP_011520837.1:p.Gly3037Arg | |
| XM_011522537.1:c.8287G>A (PKD1) | XP_011520839.1:p.Gly2763Arg | |
| XR_932867.1:n.11302G>A (PKD1) | ||
| XR_932868.1:n.11110-352G>A (PKD1) | ||
| XR_932869.1:n.11110-352G>A (PKD1) | ||
| XR_932870.1:n.11162G>A (PKD1) | ||
| XR_933000.1:n.90-349C>T (PKD1-AS1) | ||
| XR_933001.1:n.180-349C>T (PKD1-AS1) | ||
| XR_933002.1:n.89-349C>T (PKD1-AS1) | ||
| XR_933003.1:n.89-349C>T (PKD1-AS1) | ||
| NR_135175.1:n.180-349C>T (PKD1-AS1) | ||
| XM_005255370.3:c.8164G>A (PKD1) | XP_005255427.1:p.Gly2722Arg | |
| XM_011522528.3:c.11263G>A (PKD1) | XP_011520830.1:p.Gly3755Arg | |
| XM_011522529.2:c.11260G>A (PKD1) | XP_011520831.1:p.Gly3754Arg | |
| XM_011522537.2:c.8287G>A (PKD1) | XP_011520839.1:p.Gly2763Arg | |
| XM_024450298.1:c.11329G>A (PKD1) | XP_024306066.1:p.Gly3777Arg | |
| XM_024450299.1:c.11257G>A (PKD1) | XP_024306067.1:p.Gly3753Arg | |
| XM_024450300.1:c.11119G>A (PKD1) | XP_024306068.1:p.Gly3707Arg | |
| XM_024450301.1:c.9205G>A (PKD1) | XP_024306069.1:p.Gly3069Arg | |
| NM_000296.4:c.11206G>A (PKD1) | NP_000287.4:p.Gly3736Arg | |
| NM_001009944.3:c.11209G>A (PKD1) MANE Select | NP_001009944.3:p.Gly3737Arg |