Canonical Allele Identifier: CA2202019083
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2102857G= , CM000678.2:g.2102857G= GRCh38
NC_000016.9:g.2152858G= , CM000678.1:g.2152858G= GRCh37
NC_000016.8:g.2092859G= NCBI36
NG_008617.1:g.40364C=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.8905C= MANE Select NP_001009944.3:p.Gln2969=
ENST00000262304.9:c.8905C= MANE Select ENSP00000262304.4:p.Gln2969=
NM_000296.3:c.8905C= NP_000287.3:p.Gln2969=
NM_000296.4:c.8905C= NP_000287.4:p.Gln2969=
NM_001009944.2:c.8905C= NP_001009944.2:p.Gln2969=
ENST00000262304.8:c.8905C= ENSP00000262304.4:p.Gln2969=
ENST00000415938.7:n.1984C=
ENST00000423118.5:c.8905C= ENSP00000399501.1:p.Gln2969=
ENST00000471603.6:n.549C=
ENST00000474088.1:n.321C=
ENST00000475889.1:n.214C=
ENST00000480227.5:n.642C=
ENST00000483731.5:n.2791C=
ENST00000486339.6:n.3041C=
ENST00000487932.5:c.3467C= ENSP00000457132.1:n.3467C=
ENST00000496574.6:n.3141C=
ENST00000562297.5:n.638C=
ENST00000567946.1:c.507C=
XM_005255370.2:c.5860C= XP_005255427.1:p.Gln1954=
XM_005255370.3:c.5860C= XP_005255427.1:p.Gln1954=
XM_011522525.1:c.8983C= XP_011520827.1:p.Gln2995=
XM_011522526.1:c.8983C= XP_011520828.1:p.Gln2995=
XM_011522527.1:c.8983C= XP_011520829.1:p.Gln2995=
XM_011522528.1:c.8959C= XP_011520830.1:p.Gln2987=
XM_011522528.3:c.8959C= XP_011520830.1:p.Gln2987=
XM_011522529.1:c.8959C= XP_011520831.1:p.Gln2987=
XM_011522529.2:c.8959C= XP_011520831.1:p.Gln2987=
XM_011522530.1:c.8929C= XP_011520832.1:p.Gln2977=
XM_011522531.1:c.8911C= XP_011520833.1:p.Gln2971=
XM_011522532.1:c.8857C= XP_011520834.1:p.Gln2953=
XM_011522533.1:c.8776C= XP_011520835.1:p.Gln2926=
XM_011522534.1:c.8719C= XP_011520836.1:p.Gln2907=
XM_011522535.1:c.6805C= XP_011520837.1:p.Gln2269=
XM_011522536.1:c.8983C= XP_011520838.1:p.Gln2995=
XM_011522537.1:c.5983C= XP_011520839.1:p.Gln1995=
XM_011522537.2:c.5983C= XP_011520839.1:p.Gln1995=
XM_024450298.1:c.9025C= XP_024306066.1:p.Gln3009=
XM_024450299.1:c.8953C= XP_024306067.1:p.Gln2985=
XM_024450300.1:c.8815C= XP_024306068.1:p.Gln2939=
XM_024450301.1:c.6901C= XP_024306069.1:p.Gln2301=
XR_932867.1:n.8998C=
XR_932868.1:n.8998C=
XR_932869.1:n.8998C=
XR_932870.1:n.8998C=