Canonical Allele Identifier: CA2202021275
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092551G= , CM000678.2:g.2092551G= GRCh38
NC_000016.9:g.2142552G= , CM000678.1:g.2142552G= GRCh37
NC_000016.8:g.2082553G= NCBI36
NG_008617.1:g.50670C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11198C= (PKD1) MANE Select ENSP00000262304.4:p.Pro3733=
ENST00000262304.8:c.11198C= (PKD1) ENSP00000262304.4:p.Pro3733=
ENST00000423118.5:c.11195C= (PKD1) ENSP00000399501.1:p.Pro3732=
ENST00000485120.1:n.47C= (PKD1)
ENST00000487932.5:c.5760C= (PKD1) ENSP00000457132.1:n.5760C=
ENST00000562425.1:c.311C= (PKD1)
ENST00000567355.1:n.361C= (PKD1)
NM_000296.3:c.11195C= (PKD1) NP_000287.3:p.Pro3732=
NM_001009944.2:c.11198C= (PKD1) NP_001009944.2:p.Pro3733=
XM_005255370.2:c.8153C= (PKD1) XP_005255427.1:p.Pro2718=
XM_011522525.1:c.11276C= (PKD1) XP_011520827.1:p.Pro3759=
XM_011522526.1:c.11273C= (PKD1) XP_011520828.1:p.Pro3758=
XM_011522527.1:c.11258C= (PKD1) XP_011520829.1:p.Pro3753=
XM_011522528.1:c.11252C= (PKD1) XP_011520830.1:p.Pro3751=
XM_011522529.1:c.11249C= (PKD1) XP_011520831.1:p.Pro3750=
XM_011522530.1:c.11222C= (PKD1) XP_011520832.1:p.Pro3741=
XM_011522531.1:c.11204C= (PKD1) XP_011520833.1:p.Pro3735=
XM_011522532.1:c.11150C= (PKD1) XP_011520834.1:p.Pro3717=
XM_011522533.1:c.11069C= (PKD1) XP_011520835.1:p.Pro3690=
XM_011522534.1:c.11012C= (PKD1) XP_011520836.1:p.Pro3671=
XM_011522535.1:c.9098C= (PKD1) XP_011520837.1:p.Pro3033=
XM_011522537.1:c.8276C= (PKD1) XP_011520839.1:p.Pro2759=
XR_932867.1:n.11291C= (PKD1)
XR_932868.1:n.11110-363C= (PKD1)
XR_932869.1:n.11110-363C= (PKD1)
XR_932870.1:n.11151C= (PKD1)
XR_933000.1:n.90-338G= (PKD1-AS1)
XR_933001.1:n.180-338G= (PKD1-AS1)
XR_933002.1:n.89-338G= (PKD1-AS1)
XR_933003.1:n.89-338G= (PKD1-AS1)
NR_135175.1:n.180-338G= (PKD1-AS1)
XM_005255370.3:c.8153C= (PKD1) XP_005255427.1:p.Pro2718=
XM_011522528.3:c.11252C= (PKD1) XP_011520830.1:p.Pro3751=
XM_011522529.2:c.11249C= (PKD1) XP_011520831.1:p.Pro3750=
XM_011522537.2:c.8276C= (PKD1) XP_011520839.1:p.Pro2759=
XM_024450298.1:c.11318C= (PKD1) XP_024306066.1:p.Pro3773=
XM_024450299.1:c.11246C= (PKD1) XP_024306067.1:p.Pro3749=
XM_024450300.1:c.11108C= (PKD1) XP_024306068.1:p.Pro3703=
XM_024450301.1:c.9194C= (PKD1) XP_024306069.1:p.Pro3065=
NM_000296.4:c.11195C= (PKD1) NP_000287.4:p.Pro3732=
NM_001009944.3:c.11198C= (PKD1) MANE Select NP_001009944.3:p.Pro3733=