Canonical Allele Identifier: CA7829181
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092112G>A , CM000678.2:g.2092112G>A GRCh38
NC_000016.9:g.2142113G>A , CM000678.1:g.2142113G>A GRCh37
NC_000016.8:g.2082114G>A NCBI36
NG_008617.1:g.51109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11346C>T (PKD1) MANE Select ENSP00000262304.4:p.Asp3782=
ENST00000262304.8:c.11346C>T (PKD1) ENSP00000262304.4:p.Asp3782=
ENST00000423118.5:c.11343C>T (PKD1) ENSP00000399501.1:p.Asp3781=
ENST00000485120.1:n.195C>T (PKD1)
ENST00000487932.5:c.5908C>T (PKD1) ENSP00000457132.1:n.5908C>T
ENST00000561668.5:c.59C>T (PKD1)
ENST00000562425.1:c.459C>T (PKD1)
ENST00000567355.1:n.509C>T (PKD1)
NM_000296.3:c.11343C>T (PKD1) NP_000287.3:p.Asp3781=
NM_001009944.2:c.11346C>T (PKD1) NP_001009944.2:p.Asp3782=
XM_005255370.2:c.8301C>T (PKD1) XP_005255427.1:p.Asp2767=
XM_011522525.1:c.11424C>T (PKD1) XP_011520827.1:p.Asp3808=
XM_011522526.1:c.11421C>T (PKD1) XP_011520828.1:p.Asp3807=
XM_011522527.1:c.11406C>T (PKD1) XP_011520829.1:p.Asp3802=
XM_011522528.1:c.11400C>T (PKD1) XP_011520830.1:p.Asp3800=
XM_011522529.1:c.11397C>T (PKD1) XP_011520831.1:p.Asp3799=
XM_011522530.1:c.11370C>T (PKD1) XP_011520832.1:p.Asp3790=
XM_011522531.1:c.11352C>T (PKD1) XP_011520833.1:p.Asp3784=
XM_011522532.1:c.11298C>T (PKD1) XP_011520834.1:p.Asp3766=
XM_011522533.1:c.11217C>T (PKD1) XP_011520835.1:p.Asp3739=
XM_011522534.1:c.11160C>T (PKD1) XP_011520836.1:p.Asp3720=
XM_011522535.1:c.9246C>T (PKD1) XP_011520837.1:p.Asp3082=
XM_011522537.1:c.8424C>T (PKD1) XP_011520839.1:p.Asp2808=
XR_932867.1:n.11439C>T (PKD1)
XR_932868.1:n.11186C>T (PKD1)
XR_932869.1:n.11186C>T (PKD1)
XR_932870.1:n.11299C>T (PKD1)
XR_933000.1:n.89+498G>A (PKD1-AS1)
XR_933001.1:n.179+498G>A (PKD1-AS1)
XR_933002.1:n.88+504G>A (PKD1-AS1)
XR_933003.1:n.88+504G>A (PKD1-AS1)
NR_135175.1:n.179+498G>A (PKD1-AS1)
XM_005255370.3:c.8301C>T (PKD1) XP_005255427.1:p.Asp2767=
XM_011522528.3:c.11400C>T (PKD1) XP_011520830.1:p.Asp3800=
XM_011522529.2:c.11397C>T (PKD1) XP_011520831.1:p.Asp3799=
XM_011522537.2:c.8424C>T (PKD1) XP_011520839.1:p.Asp2808=
XM_024450298.1:c.11466C>T (PKD1) XP_024306066.1:p.Asp3822=
XM_024450299.1:c.11394C>T (PKD1) XP_024306067.1:p.Asp3798=
XM_024450300.1:c.11256C>T (PKD1) XP_024306068.1:p.Asp3752=
XM_024450301.1:c.9342C>T (PKD1) XP_024306069.1:p.Asp3114=
NM_000296.4:c.11343C>T (PKD1) NP_000287.4:p.Asp3781=
NM_001009944.3:c.11346C>T (PKD1) MANE Select NP_001009944.3:p.Asp3782=