Canonical Allele Identifier: CA2202019850
Community Standard Title: NM_001009944.3(PKD1):c.11277C= (p.Tyr3759=)
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092181G= , CM000678.2:g.2092181G= GRCh38
NC_000016.9:g.2142182G= , CM000678.1:g.2142182G= GRCh37
NC_000016.8:g.2082183G= NCBI36
NG_008617.1:g.51040C=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.11277C= (PKD1) MANE Select NP_001009944.3:p.Tyr3759=
ENST00000262304.9:c.11277C= (PKD1) MANE Select ENSP00000262304.4:p.Tyr3759=
NM_000296.3:c.11274C= (PKD1) NP_000287.3:p.Tyr3758=
NM_000296.4:c.11274C= (PKD1) NP_000287.4:p.Tyr3758=
NM_001009944.2:c.11277C= (PKD1) NP_001009944.2:p.Tyr3759=
NR_135175.1:n.179+567G= (PKD1-AS1)
ENST00000262304.8:c.11277C= (PKD1) ENSP00000262304.4:p.Tyr3759=
ENST00000423118.5:c.11274C= (PKD1) ENSP00000399501.1:p.Tyr3758=
ENST00000485120.1:n.126C= (PKD1)
ENST00000487932.5:c.5839C= (PKD1) ENSP00000457132.1:n.5839C=
ENST00000562425.1:c.390C= (PKD1)
ENST00000567355.1:n.440C= (PKD1)
XM_005255370.2:c.8232C= (PKD1) XP_005255427.1:p.Tyr2744=
XM_005255370.3:c.8232C= (PKD1) XP_005255427.1:p.Tyr2744=
XM_011522525.1:c.11355C= (PKD1) XP_011520827.1:p.Tyr3785=
XM_011522526.1:c.11352C= (PKD1) XP_011520828.1:p.Tyr3784=
XM_011522527.1:c.11337C= (PKD1) XP_011520829.1:p.Tyr3779=
XM_011522528.1:c.11331C= (PKD1) XP_011520830.1:p.Tyr3777=
XM_011522528.3:c.11331C= (PKD1) XP_011520830.1:p.Tyr3777=
XM_011522529.1:c.11328C= (PKD1) XP_011520831.1:p.Tyr3776=
XM_011522529.2:c.11328C= (PKD1) XP_011520831.1:p.Tyr3776=
XM_011522530.1:c.11301C= (PKD1) XP_011520832.1:p.Tyr3767=
XM_011522531.1:c.11283C= (PKD1) XP_011520833.1:p.Tyr3761=
XM_011522532.1:c.11229C= (PKD1) XP_011520834.1:p.Tyr3743=
XM_011522533.1:c.11148C= (PKD1) XP_011520835.1:p.Tyr3716=
XM_011522534.1:c.11091C= (PKD1) XP_011520836.1:p.Tyr3697=
XM_011522535.1:c.9177C= (PKD1) XP_011520837.1:p.Tyr3059=
XM_011522537.1:c.8355C= (PKD1) XP_011520839.1:p.Tyr2785=
XM_011522537.2:c.8355C= (PKD1) XP_011520839.1:p.Tyr2785=
XM_024450298.1:c.11397C= (PKD1) XP_024306066.1:p.Tyr3799=
XM_024450299.1:c.11325C= (PKD1) XP_024306067.1:p.Tyr3775=
XM_024450300.1:c.11187C= (PKD1) XP_024306068.1:p.Tyr3729=
XM_024450301.1:c.9273C= (PKD1) XP_024306069.1:p.Tyr3091=
XR_932867.1:n.11370C= (PKD1)
XR_932868.1:n.11117C= (PKD1)
XR_932869.1:n.11117C= (PKD1)
XR_932870.1:n.11230C= (PKD1)
XR_933000.1:n.89+567G= (PKD1-AS1)
XR_933001.1:n.179+567G= (PKD1-AS1)
XR_933002.1:n.88+573G= (PKD1-AS1)
XR_933003.1:n.88+573G= (PKD1-AS1)