Linked Data
dbSNP Id:
rs781708056
ExAC:
16:2142505 G / A
gnomAD v2:
16-2142505-G-A
gnomAD v3:
16-2092504-G-A
gnomAD v4:
16-2092504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092504G>A , CM000678.2:g.2092504G>A | GRCh38 |
| NC_000016.9:g.2142505G>A , CM000678.1:g.2142505G>A | GRCh37 |
| NC_000016.8:g.2082506G>A | NCBI36 |
| NG_008617.1:g.50717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11245C>T (PKD1) MANE Select | ENSP00000262304.4:p.Leu3749= | |
| ENST00000262304.8:c.11245C>T (PKD1) | ENSP00000262304.4:p.Leu3749= | |
| ENST00000423118.5:c.11242C>T (PKD1) | ENSP00000399501.1:p.Leu3748= | |
| ENST00000485120.1:n.94C>T (PKD1) | ||
| ENST00000487932.5:c.5807C>T (PKD1) | ENSP00000457132.1:n.5807C>T | |
| ENST00000562425.1:c.358C>T (PKD1) | ||
| ENST00000567355.1:n.408C>T (PKD1) | ||
| NM_000296.3:c.11242C>T (PKD1) | NP_000287.3:p.Leu3748= | |
| NM_001009944.2:c.11245C>T (PKD1) | NP_001009944.2:p.Leu3749= | |
| XM_005255370.2:c.8200C>T (PKD1) | XP_005255427.1:p.Leu2734= | |
| XM_011522525.1:c.11323C>T (PKD1) | XP_011520827.1:p.Leu3775= | |
| XM_011522526.1:c.11320C>T (PKD1) | XP_011520828.1:p.Leu3774= | |
| XM_011522527.1:c.11305C>T (PKD1) | XP_011520829.1:p.Leu3769= | |
| XM_011522528.1:c.11299C>T (PKD1) | XP_011520830.1:p.Leu3767= | |
| XM_011522529.1:c.11296C>T (PKD1) | XP_011520831.1:p.Leu3766= | |
| XM_011522530.1:c.11269C>T (PKD1) | XP_011520832.1:p.Leu3757= | |
| XM_011522531.1:c.11251C>T (PKD1) | XP_011520833.1:p.Leu3751= | |
| XM_011522532.1:c.11197C>T (PKD1) | XP_011520834.1:p.Leu3733= | |
| XM_011522533.1:c.11116C>T (PKD1) | XP_011520835.1:p.Leu3706= | |
| XM_011522534.1:c.11059C>T (PKD1) | XP_011520836.1:p.Leu3687= | |
| XM_011522535.1:c.9145C>T (PKD1) | XP_011520837.1:p.Leu3049= | |
| XM_011522537.1:c.8323C>T (PKD1) | XP_011520839.1:p.Leu2775= | |
| XR_932867.1:n.11338C>T (PKD1) | ||
| XR_932868.1:n.11110-316C>T (PKD1) | ||
| XR_932869.1:n.11110-316C>T (PKD1) | ||
| XR_932870.1:n.11198C>T (PKD1) | ||
| XR_933000.1:n.90-385G>A (PKD1-AS1) | ||
| XR_933001.1:n.180-385G>A (PKD1-AS1) | ||
| XR_933002.1:n.89-385G>A (PKD1-AS1) | ||
| XR_933003.1:n.89-385G>A (PKD1-AS1) | ||
| NR_135175.1:n.180-385G>A (PKD1-AS1) | ||
| XM_005255370.3:c.8200C>T (PKD1) | XP_005255427.1:p.Leu2734= | |
| XM_011522528.3:c.11299C>T (PKD1) | XP_011520830.1:p.Leu3767= | |
| XM_011522529.2:c.11296C>T (PKD1) | XP_011520831.1:p.Leu3766= | |
| XM_011522537.2:c.8323C>T (PKD1) | XP_011520839.1:p.Leu2775= | |
| XM_024450298.1:c.11365C>T (PKD1) | XP_024306066.1:p.Leu3789= | |
| XM_024450299.1:c.11293C>T (PKD1) | XP_024306067.1:p.Leu3765= | |
| XM_024450300.1:c.11155C>T (PKD1) | XP_024306068.1:p.Leu3719= | |
| XM_024450301.1:c.9241C>T (PKD1) | XP_024306069.1:p.Leu3081= | |
| NM_000296.4:c.11242C>T (PKD1) | NP_000287.4:p.Leu3748= | |
| NM_001009944.3:c.11245C>T (PKD1) MANE Select | NP_001009944.3:p.Leu3749= |