Canonical Allele Identifier: CA2202041233
Community Standard Title: NM_001009944.3(PKD1):c.9829C= (p.Arg3277=)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2099955G= , CM000678.2:g.2099955G= GRCh38
NC_000016.9:g.2149956G= , CM000678.1:g.2149956G= GRCh37
NC_000016.8:g.2089957G= NCBI36
NG_008617.1:g.43266C=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.9829C= MANE Select NP_001009944.3:p.Arg3277=
ENST00000262304.9:c.9829C= MANE Select ENSP00000262304.4:p.Arg3277=
NM_000296.3:c.9829C= NP_000287.3:p.Arg3277=
NM_000296.4:c.9829C= NP_000287.4:p.Arg3277=
NM_001009944.2:c.9829C= NP_001009944.2:p.Arg3277=
ENST00000262304.8:c.9829C= ENSP00000262304.4:p.Arg3277=
ENST00000415938.7:n.2908C=
ENST00000423118.5:c.9829C= ENSP00000399501.1:p.Arg3277=
ENST00000469851.1:n.638C=
ENST00000471603.6:n.1473C=
ENST00000480227.5:n.1566C=
ENST00000483731.5:n.3715C=
ENST00000486339.6:n.3965C=
ENST00000487932.5:c.4391C= ENSP00000457132.1:n.4391C=
ENST00000496574.6:n.4065C=
ENST00000562297.5:n.1562C=
ENST00000566905.5:n.319C=
ENST00000567946.1:c.1431C=
ENST00000570193.5:n.273C=
ENST00000570253.5:n.252C=
XM_005255370.2:c.6784C= XP_005255427.1:p.Arg2262=
XM_005255370.3:c.6784C= XP_005255427.1:p.Arg2262=
XM_011522525.1:c.9907C= XP_011520827.1:p.Arg3303=
XM_011522526.1:c.9907C= XP_011520828.1:p.Arg3303=
XM_011522527.1:c.9889C= XP_011520829.1:p.Arg3297=
XM_011522528.1:c.9883C= XP_011520830.1:p.Arg3295=
XM_011522528.3:c.9883C= XP_011520830.1:p.Arg3295=
XM_011522529.1:c.9883C= XP_011520831.1:p.Arg3295=
XM_011522529.2:c.9883C= XP_011520831.1:p.Arg3295=
XM_011522530.1:c.9853C= XP_011520832.1:p.Arg3285=
XM_011522531.1:c.9835C= XP_011520833.1:p.Arg3279=
XM_011522532.1:c.9781C= XP_011520834.1:p.Arg3261=
XM_011522533.1:c.9700C= XP_011520835.1:p.Arg3234=
XM_011522534.1:c.9643C= XP_011520836.1:p.Arg3215=
XM_011522535.1:c.7729C= XP_011520837.1:p.Arg2577=
XM_011522536.1:c.9907C= XP_011520838.1:p.Arg3303=
XM_011522537.1:c.6907C= XP_011520839.1:p.Arg2303=
XM_011522537.2:c.6907C= XP_011520839.1:p.Arg2303=
XM_024450298.1:c.9949C= XP_024306066.1:p.Arg3317=
XM_024450299.1:c.9877C= XP_024306067.1:p.Arg3293=
XM_024450300.1:c.9739C= XP_024306068.1:p.Arg3247=
XM_024450301.1:c.7825C= XP_024306069.1:p.Arg2609=
XR_932867.1:n.9922C=
XR_932868.1:n.9922C=
XR_932869.1:n.9922C=
XR_932870.1:n.9922C=