Canonical Allele Identifier: CA2202021325
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092566G= , CM000678.2:g.2092566G= GRCh38
NC_000016.9:g.2142567G= , CM000678.1:g.2142567G= GRCh37
NC_000016.8:g.2082568G= NCBI36
NG_008617.1:g.50655C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11183C= (PKD1) MANE Select ENSP00000262304.4:p.Ala3728=
ENST00000262304.8:c.11183C= (PKD1) ENSP00000262304.4:p.Ala3728=
ENST00000423118.5:c.11180C= (PKD1) ENSP00000399501.1:p.Ala3727=
ENST00000485120.1:n.32C= (PKD1)
ENST00000487932.5:c.5745C= (PKD1) ENSP00000457132.1:n.5745C=
ENST00000562425.1:c.296C= (PKD1)
ENST00000567355.1:n.346C= (PKD1)
NM_000296.3:c.11180C= (PKD1) NP_000287.3:p.Ala3727=
NM_001009944.2:c.11183C= (PKD1) NP_001009944.2:p.Ala3728=
XM_005255370.2:c.8138C= (PKD1) XP_005255427.1:p.Ala2713=
XM_011522525.1:c.11261C= (PKD1) XP_011520827.1:p.Ala3754=
XM_011522526.1:c.11258C= (PKD1) XP_011520828.1:p.Ala3753=
XM_011522527.1:c.11243C= (PKD1) XP_011520829.1:p.Ala3748=
XM_011522528.1:c.11237C= (PKD1) XP_011520830.1:p.Ala3746=
XM_011522529.1:c.11234C= (PKD1) XP_011520831.1:p.Ala3745=
XM_011522530.1:c.11207C= (PKD1) XP_011520832.1:p.Ala3736=
XM_011522531.1:c.11189C= (PKD1) XP_011520833.1:p.Ala3730=
XM_011522532.1:c.11135C= (PKD1) XP_011520834.1:p.Ala3712=
XM_011522533.1:c.11054C= (PKD1) XP_011520835.1:p.Ala3685=
XM_011522534.1:c.10997C= (PKD1) XP_011520836.1:p.Ala3666=
XM_011522535.1:c.9083C= (PKD1) XP_011520837.1:p.Ala3028=
XM_011522537.1:c.8261C= (PKD1) XP_011520839.1:p.Ala2754=
XR_932867.1:n.11276C= (PKD1)
XR_932868.1:n.11110-378C= (PKD1)
XR_932869.1:n.11110-378C= (PKD1)
XR_932870.1:n.11136C= (PKD1)
XR_933000.1:n.90-323G= (PKD1-AS1)
XR_933001.1:n.180-323G= (PKD1-AS1)
XR_933002.1:n.89-323G= (PKD1-AS1)
XR_933003.1:n.89-323G= (PKD1-AS1)
NR_135175.1:n.180-323G= (PKD1-AS1)
XM_005255370.3:c.8138C= (PKD1) XP_005255427.1:p.Ala2713=
XM_011522528.3:c.11237C= (PKD1) XP_011520830.1:p.Ala3746=
XM_011522529.2:c.11234C= (PKD1) XP_011520831.1:p.Ala3745=
XM_011522537.2:c.8261C= (PKD1) XP_011520839.1:p.Ala2754=
XM_024450298.1:c.11303C= (PKD1) XP_024306066.1:p.Ala3768=
XM_024450299.1:c.11231C= (PKD1) XP_024306067.1:p.Ala3744=
XM_024450300.1:c.11093C= (PKD1) XP_024306068.1:p.Ala3698=
XM_024450301.1:c.9179C= (PKD1) XP_024306069.1:p.Ala3060=
NM_000296.4:c.11180C= (PKD1) NP_000287.4:p.Ala3727=
NM_001009944.3:c.11183C= (PKD1) MANE Select NP_001009944.3:p.Ala3728=