Canonical Allele Identifier: CA16043503
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374187
dbSNP Id: rs1057518959

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091794A>G , CM000678.2:g.2091794A>G GRCh38
NC_000016.9:g.2141795A>G , CM000678.1:g.2141795A>G GRCh37
NC_000016.8:g.2081796A>G NCBI36
NG_008617.1:g.51427T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.11524T>C (PKD1) MANE Select ENSP00000262304.4:p.Trp3842Arg
ENST00000262304.8:c.11524T>C (PKD1) ENSP00000262304.4:p.Trp3842Arg
ENST00000423118.5:c.11521T>C (PKD1) ENSP00000399501.1:p.Trp3841Arg
ENST00000485120.1:n.513T>C (PKD1)
ENST00000487932.5:c.6086T>C (PKD1) ENSP00000457132.1:n.6086T>C
ENST00000561668.5:c.185T>C (PKD1)
ENST00000564313.1:n.220T>C (PKD1)
NM_000296.3:c.11521T>C (PKD1) NP_000287.3:p.Trp3841Arg
NM_001009944.2:c.11524T>C (PKD1) NP_001009944.2:p.Trp3842Arg
XM_005255370.2:c.8479T>C (PKD1) XP_005255427.1:p.Trp2827Arg
XM_011522525.1:c.11602T>C (PKD1) XP_011520827.1:p.Trp3868Arg
XM_011522526.1:c.11599T>C (PKD1) XP_011520828.1:p.Trp3867Arg
XM_011522527.1:c.11584T>C (PKD1) XP_011520829.1:p.Trp3862Arg
XM_011522528.1:c.11578T>C (PKD1) XP_011520830.1:p.Trp3860Arg
XM_011522529.1:c.11575T>C (PKD1) XP_011520831.1:p.Trp3859Arg
XM_011522530.1:c.11548T>C (PKD1) XP_011520832.1:p.Trp3850Arg
XM_011522531.1:c.11530T>C (PKD1) XP_011520833.1:p.Trp3844Arg
XM_011522532.1:c.11476T>C (PKD1) XP_011520834.1:p.Trp3826Arg
XM_011522533.1:c.11395T>C (PKD1) XP_011520835.1:p.Trp3799Arg
XM_011522534.1:c.11338T>C (PKD1) XP_011520836.1:p.Trp3780Arg
XM_011522535.1:c.9424T>C (PKD1) XP_011520837.1:p.Trp3142Arg
XM_011522537.1:c.8602T>C (PKD1) XP_011520839.1:p.Trp2868Arg
XR_932867.1:n.11617T>C (PKD1)
XR_932868.1:n.11364T>C (PKD1)
XR_932869.1:n.11364T>C (PKD1)
XR_933000.1:n.89+180A>G (PKD1-AS1)
XR_933001.1:n.179+180A>G (PKD1-AS1)
XR_933002.1:n.88+186A>G (PKD1-AS1)
XR_933003.1:n.88+186A>G (PKD1-AS1)
NR_135175.1:n.179+180A>G (PKD1-AS1)
XM_005255370.3:c.8479T>C (PKD1) XP_005255427.1:p.Trp2827Arg
XM_011522528.3:c.11578T>C (PKD1) XP_011520830.1:p.Trp3860Arg
XM_011522529.2:c.11575T>C (PKD1) XP_011520831.1:p.Trp3859Arg
XM_011522537.2:c.8602T>C (PKD1) XP_011520839.1:p.Trp2868Arg
XM_024450298.1:c.11644T>C (PKD1) XP_024306066.1:p.Trp3882Arg
XM_024450299.1:c.11572T>C (PKD1) XP_024306067.1:p.Trp3858Arg
XM_024450300.1:c.11434T>C (PKD1) XP_024306068.1:p.Trp3812Arg
XM_024450301.1:c.9520T>C (PKD1) XP_024306069.1:p.Trp3174Arg
NM_000296.4:c.11521T>C (PKD1) NP_000287.4:p.Trp3841Arg
NM_001009944.3:c.11524T>C (PKD1) MANE Select NP_001009944.3:p.Trp3842Arg