Canonical Allele Identifier: CA2202035101
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106580C= , CM000678.2:g.2106580C= GRCh38
NC_000016.9:g.2156581C= , CM000678.1:g.2156581C= GRCh37
NC_000016.8:g.2096582C= NCBI36
NG_008617.1:g.34319G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.7307G= MANE Select ENSP00000262304.4:p.Gly2436=
ENST00000262304.8:c.7307G= ENSP00000262304.4:p.Gly2436=
ENST00000415938.7:n.552G=
ENST00000423118.5:c.7307G= ENSP00000399501.1:p.Gly2436=
ENST00000483558.5:n.366G=
ENST00000483731.5:n.1032G=
ENST00000486339.6:n.1053G=
ENST00000487932.5:c.1994G= ENSP00000457132.1:p.Gly665=
ENST00000496574.6:n.1310G=
ENST00000565639.6:n.1015G=
ENST00000568591.5:c.2468G= ENSP00000457162.1:n.2468G=
ENST00000569983.5:n.663G=
NM_000296.3:c.7307G= NP_000287.3:p.Gly2436=
NM_001009944.2:c.7307G= NP_001009944.2:p.Gly2436=
XM_005255370.2:c.4262G= XP_005255427.1:p.Gly1421=
XM_011522525.1:c.7385G= XP_011520827.1:p.Gly2462=
XM_011522526.1:c.7385G= XP_011520828.1:p.Gly2462=
XM_011522527.1:c.7385G= XP_011520829.1:p.Gly2462=
XM_011522528.1:c.7361G= XP_011520830.1:p.Gly2454=
XM_011522529.1:c.7361G= XP_011520831.1:p.Gly2454=
XM_011522530.1:c.7331G= XP_011520832.1:p.Gly2444=
XM_011522531.1:c.7313G= XP_011520833.1:p.Gly2438=
XM_011522532.1:c.7259G= XP_011520834.1:p.Gly2420=
XM_011522533.1:c.7178G= XP_011520835.1:p.Gly2393=
XM_011522534.1:c.7121G= XP_011520836.1:p.Gly2374=
XM_011522535.1:c.5207G= XP_011520837.1:p.Gly1736=
XM_011522536.1:c.7385G= XP_011520838.1:p.Gly2462=
XM_011522537.1:c.4385G= XP_011520839.1:p.Gly1462=
XR_932867.1:n.7400G=
XR_932868.1:n.7400G=
XR_932869.1:n.7400G=
XR_932870.1:n.7400G=
XM_005255370.3:c.4262G= XP_005255427.1:p.Gly1421=
XM_011522528.3:c.7361G= XP_011520830.1:p.Gly2454=
XM_011522529.2:c.7361G= XP_011520831.1:p.Gly2454=
XM_011522537.2:c.4385G= XP_011520839.1:p.Gly1462=
XM_024450298.1:c.7427G= XP_024306066.1:p.Gly2476=
XM_024450299.1:c.7355G= XP_024306067.1:p.Gly2452=
XM_024450300.1:c.7217G= XP_024306068.1:p.Gly2406=
XM_024450301.1:c.5303G= XP_024306069.1:p.Gly1768=
NM_000296.4:c.7307G= NP_000287.4:p.Gly2436=
NM_001009944.3:c.7307G= MANE Select NP_001009944.3:p.Gly2436=