Canonical Allele Identifier: CA2202021331
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092571C= , CM000678.2:g.2092571C= GRCh38
NC_000016.9:g.2142572C= , CM000678.1:g.2142572C= GRCh37
NC_000016.8:g.2082573C= NCBI36
NG_008617.1:g.50650G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11178G= (PKD1) MANE Select ENSP00000262304.4:p.Trp3726=
ENST00000262304.8:c.11178G= (PKD1) ENSP00000262304.4:p.Trp3726=
ENST00000423118.5:c.11175G= (PKD1) ENSP00000399501.1:p.Trp3725=
ENST00000485120.1:n.27G= (PKD1)
ENST00000487932.5:c.5740G= (PKD1) ENSP00000457132.1:n.5740G=
ENST00000562425.1:c.291G= (PKD1)
ENST00000567355.1:n.341G= (PKD1)
NM_000296.3:c.11175G= (PKD1) NP_000287.3:p.Trp3725=
NM_001009944.2:c.11178G= (PKD1) NP_001009944.2:p.Trp3726=
XM_005255370.2:c.8133G= (PKD1) XP_005255427.1:p.Trp2711=
XM_011522525.1:c.11256G= (PKD1) XP_011520827.1:p.Trp3752=
XM_011522526.1:c.11253G= (PKD1) XP_011520828.1:p.Trp3751=
XM_011522527.1:c.11238G= (PKD1) XP_011520829.1:p.Trp3746=
XM_011522528.1:c.11232G= (PKD1) XP_011520830.1:p.Trp3744=
XM_011522529.1:c.11229G= (PKD1) XP_011520831.1:p.Trp3743=
XM_011522530.1:c.11202G= (PKD1) XP_011520832.1:p.Trp3734=
XM_011522531.1:c.11184G= (PKD1) XP_011520833.1:p.Trp3728=
XM_011522532.1:c.11130G= (PKD1) XP_011520834.1:p.Trp3710=
XM_011522533.1:c.11049G= (PKD1) XP_011520835.1:p.Trp3683=
XM_011522534.1:c.10992G= (PKD1) XP_011520836.1:p.Trp3664=
XM_011522535.1:c.9078G= (PKD1) XP_011520837.1:p.Trp3026=
XM_011522537.1:c.8256G= (PKD1) XP_011520839.1:p.Trp2752=
XR_932867.1:n.11271G= (PKD1)
XR_932868.1:n.11110-383G= (PKD1)
XR_932869.1:n.11110-383G= (PKD1)
XR_932870.1:n.11131G= (PKD1)
XR_933000.1:n.90-318C= (PKD1-AS1)
XR_933001.1:n.180-318C= (PKD1-AS1)
XR_933002.1:n.89-318C= (PKD1-AS1)
XR_933003.1:n.89-318C= (PKD1-AS1)
NR_135175.1:n.180-318C= (PKD1-AS1)
XM_005255370.3:c.8133G= (PKD1) XP_005255427.1:p.Trp2711=
XM_011522528.3:c.11232G= (PKD1) XP_011520830.1:p.Trp3744=
XM_011522529.2:c.11229G= (PKD1) XP_011520831.1:p.Trp3743=
XM_011522537.2:c.8256G= (PKD1) XP_011520839.1:p.Trp2752=
XM_024450298.1:c.11298G= (PKD1) XP_024306066.1:p.Trp3766=
XM_024450299.1:c.11226G= (PKD1) XP_024306067.1:p.Trp3742=
XM_024450300.1:c.11088G= (PKD1) XP_024306068.1:p.Trp3696=
XM_024450301.1:c.9174G= (PKD1) XP_024306069.1:p.Trp3058=
NM_000296.4:c.11175G= (PKD1) NP_000287.4:p.Trp3725=
NM_001009944.3:c.11178G= (PKD1) MANE Select NP_001009944.3:p.Trp3726=