Canonical Allele Identifier: CA2202021158
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092522C= , CM000678.2:g.2092522C= GRCh38
NC_000016.9:g.2142523C= , CM000678.1:g.2142523C= GRCh37
NC_000016.8:g.2082524C= NCBI36
NG_008617.1:g.50699G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11227G= (PKD1) MANE Select ENSP00000262304.4:p.Glu3743=
ENST00000262304.8:c.11227G= (PKD1) ENSP00000262304.4:p.Glu3743=
ENST00000423118.5:c.11224G= (PKD1) ENSP00000399501.1:p.Glu3742=
ENST00000485120.1:n.76G= (PKD1)
ENST00000487932.5:c.5789G= (PKD1) ENSP00000457132.1:n.5789G=
ENST00000562425.1:c.340G= (PKD1)
ENST00000567355.1:n.390G= (PKD1)
NM_000296.3:c.11224G= (PKD1) NP_000287.3:p.Glu3742=
NM_001009944.2:c.11227G= (PKD1) NP_001009944.2:p.Glu3743=
XM_005255370.2:c.8182G= (PKD1) XP_005255427.1:p.Glu2728=
XM_011522525.1:c.11305G= (PKD1) XP_011520827.1:p.Glu3769=
XM_011522526.1:c.11302G= (PKD1) XP_011520828.1:p.Glu3768=
XM_011522527.1:c.11287G= (PKD1) XP_011520829.1:p.Glu3763=
XM_011522528.1:c.11281G= (PKD1) XP_011520830.1:p.Glu3761=
XM_011522529.1:c.11278G= (PKD1) XP_011520831.1:p.Glu3760=
XM_011522530.1:c.11251G= (PKD1) XP_011520832.1:p.Glu3751=
XM_011522531.1:c.11233G= (PKD1) XP_011520833.1:p.Glu3745=
XM_011522532.1:c.11179G= (PKD1) XP_011520834.1:p.Glu3727=
XM_011522533.1:c.11098G= (PKD1) XP_011520835.1:p.Glu3700=
XM_011522534.1:c.11041G= (PKD1) XP_011520836.1:p.Glu3681=
XM_011522535.1:c.9127G= (PKD1) XP_011520837.1:p.Glu3043=
XM_011522537.1:c.8305G= (PKD1) XP_011520839.1:p.Glu2769=
XR_932867.1:n.11320G= (PKD1)
XR_932868.1:n.11110-334G= (PKD1)
XR_932869.1:n.11110-334G= (PKD1)
XR_932870.1:n.11180G= (PKD1)
XR_933000.1:n.90-367C= (PKD1-AS1)
XR_933001.1:n.180-367C= (PKD1-AS1)
XR_933002.1:n.89-367C= (PKD1-AS1)
XR_933003.1:n.89-367C= (PKD1-AS1)
NR_135175.1:n.180-367C= (PKD1-AS1)
XM_005255370.3:c.8182G= (PKD1) XP_005255427.1:p.Glu2728=
XM_011522528.3:c.11281G= (PKD1) XP_011520830.1:p.Glu3761=
XM_011522529.2:c.11278G= (PKD1) XP_011520831.1:p.Glu3760=
XM_011522537.2:c.8305G= (PKD1) XP_011520839.1:p.Glu2769=
XM_024450298.1:c.11347G= (PKD1) XP_024306066.1:p.Glu3783=
XM_024450299.1:c.11275G= (PKD1) XP_024306067.1:p.Glu3759=
XM_024450300.1:c.11137G= (PKD1) XP_024306068.1:p.Glu3713=
XM_024450301.1:c.9223G= (PKD1) XP_024306069.1:p.Glu3075=
NM_000296.4:c.11224G= (PKD1) NP_000287.4:p.Glu3742=
NM_001009944.3:c.11227G= (PKD1) MANE Select NP_001009944.3:p.Glu3743=