Canonical Allele Identifier: CA493044934
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092154G>A , CM000678.2:g.2092154G>A GRCh38
NC_000016.9:g.2142155G>A , CM000678.1:g.2142155G>A GRCh37
NC_000016.8:g.2082156G>A NCBI36
NG_008617.1:g.51067C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11304C>T (PKD1) MANE Select ENSP00000262304.4:p.His3768=
ENST00000262304.8:c.11304C>T (PKD1) ENSP00000262304.4:p.His3768=
ENST00000423118.5:c.11301C>T (PKD1) ENSP00000399501.1:p.His3767=
ENST00000485120.1:n.153C>T (PKD1)
ENST00000487932.5:c.5866C>T (PKD1) ENSP00000457132.1:n.5866C>T
ENST00000561668.5:c.17C>T (PKD1)
ENST00000562425.1:c.417C>T (PKD1)
ENST00000567355.1:n.467C>T (PKD1)
NM_000296.3:c.11301C>T (PKD1) NP_000287.3:p.His3767=
NM_001009944.2:c.11304C>T (PKD1) NP_001009944.2:p.His3768=
XM_005255370.2:c.8259C>T (PKD1) XP_005255427.1:p.His2753=
XM_011522525.1:c.11382C>T (PKD1) XP_011520827.1:p.His3794=
XM_011522526.1:c.11379C>T (PKD1) XP_011520828.1:p.His3793=
XM_011522527.1:c.11364C>T (PKD1) XP_011520829.1:p.His3788=
XM_011522528.1:c.11358C>T (PKD1) XP_011520830.1:p.His3786=
XM_011522529.1:c.11355C>T (PKD1) XP_011520831.1:p.His3785=
XM_011522530.1:c.11328C>T (PKD1) XP_011520832.1:p.His3776=
XM_011522531.1:c.11310C>T (PKD1) XP_011520833.1:p.His3770=
XM_011522532.1:c.11256C>T (PKD1) XP_011520834.1:p.His3752=
XM_011522533.1:c.11175C>T (PKD1) XP_011520835.1:p.His3725=
XM_011522534.1:c.11118C>T (PKD1) XP_011520836.1:p.His3706=
XM_011522535.1:c.9204C>T (PKD1) XP_011520837.1:p.His3068=
XM_011522537.1:c.8382C>T (PKD1) XP_011520839.1:p.His2794=
XR_932867.1:n.11397C>T (PKD1)
XR_932868.1:n.11144C>T (PKD1)
XR_932869.1:n.11144C>T (PKD1)
XR_932870.1:n.11257C>T (PKD1)
XR_933000.1:n.89+540G>A (PKD1-AS1)
XR_933001.1:n.179+540G>A (PKD1-AS1)
XR_933002.1:n.88+546G>A (PKD1-AS1)
XR_933003.1:n.88+546G>A (PKD1-AS1)
NR_135175.1:n.179+540G>A (PKD1-AS1)
XM_005255370.3:c.8259C>T (PKD1) XP_005255427.1:p.His2753=
XM_011522528.3:c.11358C>T (PKD1) XP_011520830.1:p.His3786=
XM_011522529.2:c.11355C>T (PKD1) XP_011520831.1:p.His3785=
XM_011522537.2:c.8382C>T (PKD1) XP_011520839.1:p.His2794=
XM_024450298.1:c.11424C>T (PKD1) XP_024306066.1:p.His3808=
XM_024450299.1:c.11352C>T (PKD1) XP_024306067.1:p.His3784=
XM_024450300.1:c.11214C>T (PKD1) XP_024306068.1:p.His3738=
XM_024450301.1:c.9300C>T (PKD1) XP_024306069.1:p.His3100=
NM_000296.4:c.11301C>T (PKD1) NP_000287.4:p.His3767=
NM_001009944.3:c.11304C>T (PKD1) MANE Select NP_001009944.3:p.His3768=