Canonical Allele Identifier: CA2202026205
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094129G= , CM000678.2:g.2094129G= GRCh38
NC_000016.9:g.2144130G= , CM000678.1:g.2144130G= GRCh37
NC_000016.8:g.2084131G= NCBI36
NG_008617.1:g.49092C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10581C= (PKD1) MANE Select ENSP00000262304.4:p.Asn3527=
ENST00000262304.8:c.10581C= (PKD1) ENSP00000262304.4:p.Asn3527=
ENST00000423118.5:c.10578C= (PKD1) ENSP00000399501.1:p.Asn3526=
ENST00000472659.1:n.18C= (PKD1)
ENST00000487932.5:c.5143C= (PKD1) ENSP00000457132.1:n.5143C=
NM_000296.3:c.10578C= (PKD1) NP_000287.3:p.Asn3526=
NM_001009944.2:c.10581C= (PKD1) NP_001009944.2:p.Asn3527=
XM_005255370.2:c.7536C= (PKD1) XP_005255427.1:p.Asn2512=
XM_011522525.1:c.10659C= (PKD1) XP_011520827.1:p.Asn3553=
XM_011522526.1:c.10656C= (PKD1) XP_011520828.1:p.Asn3552=
XM_011522527.1:c.10641C= (PKD1) XP_011520829.1:p.Asn3547=
XM_011522528.1:c.10635C= (PKD1) XP_011520830.1:p.Asn3545=
XM_011522529.1:c.10632C= (PKD1) XP_011520831.1:p.Asn3544=
XM_011522530.1:c.10605C= (PKD1) XP_011520832.1:p.Asn3535=
XM_011522531.1:c.10587C= (PKD1) XP_011520833.1:p.Asn3529=
XM_011522532.1:c.10533C= (PKD1) XP_011520834.1:p.Asn3511=
XM_011522533.1:c.10452C= (PKD1) XP_011520835.1:p.Asn3484=
XM_011522534.1:c.10395C= (PKD1) XP_011520836.1:p.Asn3465=
XM_011522535.1:c.8481C= (PKD1) XP_011520837.1:p.Asn2827=
XM_011522537.1:c.7659C= (PKD1) XP_011520839.1:p.Asn2553=
XR_932867.1:n.10674C= (PKD1)
XR_932868.1:n.10674C= (PKD1)
XR_932869.1:n.10674C= (PKD1)
XR_932870.1:n.10674C= (PKD1)
XR_933000.1:n.214-549G= (PKD1-AS1)
XR_933001.1:n.304-592G= (PKD1-AS1)
XR_933002.1:n.213-549G= (PKD1-AS1)
XR_933003.1:n.213-592G= (PKD1-AS1)
NR_135175.1:n.304-592G= (PKD1-AS1)
XM_005255370.3:c.7536C= (PKD1) XP_005255427.1:p.Asn2512=
XM_011522528.3:c.10635C= (PKD1) XP_011520830.1:p.Asn3545=
XM_011522529.2:c.10632C= (PKD1) XP_011520831.1:p.Asn3544=
XM_011522537.2:c.7659C= (PKD1) XP_011520839.1:p.Asn2553=
XM_024450298.1:c.10701C= (PKD1) XP_024306066.1:p.Asn3567=
XM_024450299.1:c.10629C= (PKD1) XP_024306067.1:p.Asn3543=
XM_024450300.1:c.10491C= (PKD1) XP_024306068.1:p.Asn3497=
XM_024450301.1:c.8577C= (PKD1) XP_024306069.1:p.Asn2859=
NM_000296.4:c.10578C= (PKD1) NP_000287.4:p.Asn3526=
NM_001009944.3:c.10581C= (PKD1) MANE Select NP_001009944.3:p.Asn3527=