Canonical Allele Identifier: CA2202021352
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092578C= , CM000678.2:g.2092578C= GRCh38
NC_000016.9:g.2142579C= , CM000678.1:g.2142579C= GRCh37
NC_000016.8:g.2082580C= NCBI36
NG_008617.1:g.50643G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11171G= (PKD1) MANE Select ENSP00000262304.4:p.Trp3724=
ENST00000262304.8:c.11171G= (PKD1) ENSP00000262304.4:p.Trp3724=
ENST00000423118.5:c.11168G= (PKD1) ENSP00000399501.1:p.Trp3723=
ENST00000485120.1:n.20G= (PKD1)
ENST00000487932.5:c.5733G= (PKD1) ENSP00000457132.1:n.5733G=
ENST00000562425.1:c.284G= (PKD1)
ENST00000567355.1:n.334G= (PKD1)
NM_000296.3:c.11168G= (PKD1) NP_000287.3:p.Trp3723=
NM_001009944.2:c.11171G= (PKD1) NP_001009944.2:p.Trp3724=
XM_005255370.2:c.8126G= (PKD1) XP_005255427.1:p.Trp2709=
XM_011522525.1:c.11249G= (PKD1) XP_011520827.1:p.Trp3750=
XM_011522526.1:c.11246G= (PKD1) XP_011520828.1:p.Trp3749=
XM_011522527.1:c.11231G= (PKD1) XP_011520829.1:p.Trp3744=
XM_011522528.1:c.11225G= (PKD1) XP_011520830.1:p.Trp3742=
XM_011522529.1:c.11222G= (PKD1) XP_011520831.1:p.Trp3741=
XM_011522530.1:c.11195G= (PKD1) XP_011520832.1:p.Trp3732=
XM_011522531.1:c.11177G= (PKD1) XP_011520833.1:p.Trp3726=
XM_011522532.1:c.11123G= (PKD1) XP_011520834.1:p.Trp3708=
XM_011522533.1:c.11042G= (PKD1) XP_011520835.1:p.Trp3681=
XM_011522534.1:c.10985G= (PKD1) XP_011520836.1:p.Trp3662=
XM_011522535.1:c.9071G= (PKD1) XP_011520837.1:p.Trp3024=
XM_011522537.1:c.8249G= (PKD1) XP_011520839.1:p.Trp2750=
XR_932867.1:n.11264G= (PKD1)
XR_932868.1:n.11110-390G= (PKD1)
XR_932869.1:n.11110-390G= (PKD1)
XR_932870.1:n.11124G= (PKD1)
XR_933000.1:n.90-311C= (PKD1-AS1)
XR_933001.1:n.180-311C= (PKD1-AS1)
XR_933002.1:n.89-311C= (PKD1-AS1)
XR_933003.1:n.89-311C= (PKD1-AS1)
NR_135175.1:n.180-311C= (PKD1-AS1)
XM_005255370.3:c.8126G= (PKD1) XP_005255427.1:p.Trp2709=
XM_011522528.3:c.11225G= (PKD1) XP_011520830.1:p.Trp3742=
XM_011522529.2:c.11222G= (PKD1) XP_011520831.1:p.Trp3741=
XM_011522537.2:c.8249G= (PKD1) XP_011520839.1:p.Trp2750=
XM_024450298.1:c.11291G= (PKD1) XP_024306066.1:p.Trp3764=
XM_024450299.1:c.11219G= (PKD1) XP_024306067.1:p.Trp3740=
XM_024450300.1:c.11081G= (PKD1) XP_024306068.1:p.Trp3694=
XM_024450301.1:c.9167G= (PKD1) XP_024306069.1:p.Trp3056=
NM_000296.4:c.11168G= (PKD1) NP_000287.4:p.Trp3723=
NM_001009944.3:c.11171G= (PKD1) MANE Select NP_001009944.3:p.Trp3724=