Canonical Allele Identifier: CA2202021211
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092541G= , CM000678.2:g.2092541G= GRCh38
NC_000016.9:g.2142542G= , CM000678.1:g.2142542G= GRCh37
NC_000016.8:g.2082543G= NCBI36
NG_008617.1:g.50680C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11208C= (PKD1) MANE Select ENSP00000262304.4:p.His3736=
ENST00000262304.8:c.11208C= (PKD1) ENSP00000262304.4:p.His3736=
ENST00000423118.5:c.11205C= (PKD1) ENSP00000399501.1:p.His3735=
ENST00000485120.1:n.57C= (PKD1)
ENST00000487932.5:c.5770C= (PKD1) ENSP00000457132.1:n.5770C=
ENST00000562425.1:c.321C= (PKD1)
ENST00000567355.1:n.371C= (PKD1)
NM_000296.3:c.11205C= (PKD1) NP_000287.3:p.His3735=
NM_001009944.2:c.11208C= (PKD1) NP_001009944.2:p.His3736=
XM_005255370.2:c.8163C= (PKD1) XP_005255427.1:p.His2721=
XM_011522525.1:c.11286C= (PKD1) XP_011520827.1:p.His3762=
XM_011522526.1:c.11283C= (PKD1) XP_011520828.1:p.His3761=
XM_011522527.1:c.11268C= (PKD1) XP_011520829.1:p.His3756=
XM_011522528.1:c.11262C= (PKD1) XP_011520830.1:p.His3754=
XM_011522529.1:c.11259C= (PKD1) XP_011520831.1:p.His3753=
XM_011522530.1:c.11232C= (PKD1) XP_011520832.1:p.His3744=
XM_011522531.1:c.11214C= (PKD1) XP_011520833.1:p.His3738=
XM_011522532.1:c.11160C= (PKD1) XP_011520834.1:p.His3720=
XM_011522533.1:c.11079C= (PKD1) XP_011520835.1:p.His3693=
XM_011522534.1:c.11022C= (PKD1) XP_011520836.1:p.His3674=
XM_011522535.1:c.9108C= (PKD1) XP_011520837.1:p.His3036=
XM_011522537.1:c.8286C= (PKD1) XP_011520839.1:p.His2762=
XR_932867.1:n.11301C= (PKD1)
XR_932868.1:n.11110-353C= (PKD1)
XR_932869.1:n.11110-353C= (PKD1)
XR_932870.1:n.11161C= (PKD1)
XR_933000.1:n.90-348G= (PKD1-AS1)
XR_933001.1:n.180-348G= (PKD1-AS1)
XR_933002.1:n.89-348G= (PKD1-AS1)
XR_933003.1:n.89-348G= (PKD1-AS1)
NR_135175.1:n.180-348G= (PKD1-AS1)
XM_005255370.3:c.8163C= (PKD1) XP_005255427.1:p.His2721=
XM_011522528.3:c.11262C= (PKD1) XP_011520830.1:p.His3754=
XM_011522529.2:c.11259C= (PKD1) XP_011520831.1:p.His3753=
XM_011522537.2:c.8286C= (PKD1) XP_011520839.1:p.His2762=
XM_024450298.1:c.11328C= (PKD1) XP_024306066.1:p.His3776=
XM_024450299.1:c.11256C= (PKD1) XP_024306067.1:p.His3752=
XM_024450300.1:c.11118C= (PKD1) XP_024306068.1:p.His3706=
XM_024450301.1:c.9204C= (PKD1) XP_024306069.1:p.His3068=
NM_000296.4:c.11205C= (PKD1) NP_000287.4:p.His3735=
NM_001009944.3:c.11208C= (PKD1) MANE Select NP_001009944.3:p.His3736=