Canonical Allele Identifier: CA2202021237
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092547G= , CM000678.2:g.2092547G= GRCh38
NC_000016.9:g.2142548G= , CM000678.1:g.2142548G= GRCh37
NC_000016.8:g.2082549G= NCBI36
NG_008617.1:g.50674C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11202C= (PKD1) MANE Select ENSP00000262304.4:p.Tyr3734=
ENST00000262304.8:c.11202C= (PKD1) ENSP00000262304.4:p.Tyr3734=
ENST00000423118.5:c.11199C= (PKD1) ENSP00000399501.1:p.Tyr3733=
ENST00000485120.1:n.51C= (PKD1)
ENST00000487932.5:c.5764C= (PKD1) ENSP00000457132.1:n.5764C=
ENST00000562425.1:c.315C= (PKD1)
ENST00000567355.1:n.365C= (PKD1)
NM_000296.3:c.11199C= (PKD1) NP_000287.3:p.Tyr3733=
NM_001009944.2:c.11202C= (PKD1) NP_001009944.2:p.Tyr3734=
XM_005255370.2:c.8157C= (PKD1) XP_005255427.1:p.Tyr2719=
XM_011522525.1:c.11280C= (PKD1) XP_011520827.1:p.Tyr3760=
XM_011522526.1:c.11277C= (PKD1) XP_011520828.1:p.Tyr3759=
XM_011522527.1:c.11262C= (PKD1) XP_011520829.1:p.Tyr3754=
XM_011522528.1:c.11256C= (PKD1) XP_011520830.1:p.Tyr3752=
XM_011522529.1:c.11253C= (PKD1) XP_011520831.1:p.Tyr3751=
XM_011522530.1:c.11226C= (PKD1) XP_011520832.1:p.Tyr3742=
XM_011522531.1:c.11208C= (PKD1) XP_011520833.1:p.Tyr3736=
XM_011522532.1:c.11154C= (PKD1) XP_011520834.1:p.Tyr3718=
XM_011522533.1:c.11073C= (PKD1) XP_011520835.1:p.Tyr3691=
XM_011522534.1:c.11016C= (PKD1) XP_011520836.1:p.Tyr3672=
XM_011522535.1:c.9102C= (PKD1) XP_011520837.1:p.Tyr3034=
XM_011522537.1:c.8280C= (PKD1) XP_011520839.1:p.Tyr2760=
XR_932867.1:n.11295C= (PKD1)
XR_932868.1:n.11110-359C= (PKD1)
XR_932869.1:n.11110-359C= (PKD1)
XR_932870.1:n.11155C= (PKD1)
XR_933000.1:n.90-342G= (PKD1-AS1)
XR_933001.1:n.180-342G= (PKD1-AS1)
XR_933002.1:n.89-342G= (PKD1-AS1)
XR_933003.1:n.89-342G= (PKD1-AS1)
NR_135175.1:n.180-342G= (PKD1-AS1)
XM_005255370.3:c.8157C= (PKD1) XP_005255427.1:p.Tyr2719=
XM_011522528.3:c.11256C= (PKD1) XP_011520830.1:p.Tyr3752=
XM_011522529.2:c.11253C= (PKD1) XP_011520831.1:p.Tyr3751=
XM_011522537.2:c.8280C= (PKD1) XP_011520839.1:p.Tyr2760=
XM_024450298.1:c.11322C= (PKD1) XP_024306066.1:p.Tyr3774=
XM_024450299.1:c.11250C= (PKD1) XP_024306067.1:p.Tyr3750=
XM_024450300.1:c.11112C= (PKD1) XP_024306068.1:p.Tyr3704=
XM_024450301.1:c.9198C= (PKD1) XP_024306069.1:p.Tyr3066=
NM_000296.4:c.11199C= (PKD1) NP_000287.4:p.Tyr3733=
NM_001009944.3:c.11202C= (PKD1) MANE Select NP_001009944.3:p.Tyr3734=