Canonical Allele Identifier: CA394336477
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092576G>C , CM000678.2:g.2092576G>C GRCh38
NC_000016.9:g.2142577G>C , CM000678.1:g.2142577G>C GRCh37
NC_000016.8:g.2082578G>C NCBI36
NG_008617.1:g.50645C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11173C>G (PKD1) MANE Select ENSP00000262304.4:p.Pro3725Ala
ENST00000262304.8:c.11173C>G (PKD1) ENSP00000262304.4:p.Pro3725Ala
ENST00000423118.5:c.11170C>G (PKD1) ENSP00000399501.1:p.Pro3724Ala
ENST00000485120.1:n.22C>G (PKD1)
ENST00000487932.5:c.5735C>G (PKD1) ENSP00000457132.1:n.5735C>G
ENST00000562425.1:c.286C>G (PKD1)
ENST00000567355.1:n.336C>G (PKD1)
NM_000296.3:c.11170C>G (PKD1) NP_000287.3:p.Pro3724Ala
NM_001009944.2:c.11173C>G (PKD1) NP_001009944.2:p.Pro3725Ala
XM_005255370.2:c.8128C>G (PKD1) XP_005255427.1:p.Pro2710Ala
XM_011522525.1:c.11251C>G (PKD1) XP_011520827.1:p.Pro3751Ala
XM_011522526.1:c.11248C>G (PKD1) XP_011520828.1:p.Pro3750Ala
XM_011522527.1:c.11233C>G (PKD1) XP_011520829.1:p.Pro3745Ala
XM_011522528.1:c.11227C>G (PKD1) XP_011520830.1:p.Pro3743Ala
XM_011522529.1:c.11224C>G (PKD1) XP_011520831.1:p.Pro3742Ala
XM_011522530.1:c.11197C>G (PKD1) XP_011520832.1:p.Pro3733Ala
XM_011522531.1:c.11179C>G (PKD1) XP_011520833.1:p.Pro3727Ala
XM_011522532.1:c.11125C>G (PKD1) XP_011520834.1:p.Pro3709Ala
XM_011522533.1:c.11044C>G (PKD1) XP_011520835.1:p.Pro3682Ala
XM_011522534.1:c.10987C>G (PKD1) XP_011520836.1:p.Pro3663Ala
XM_011522535.1:c.9073C>G (PKD1) XP_011520837.1:p.Pro3025Ala
XM_011522537.1:c.8251C>G (PKD1) XP_011520839.1:p.Pro2751Ala
XR_932867.1:n.11266C>G (PKD1)
XR_932868.1:n.11110-388C>G (PKD1)
XR_932869.1:n.11110-388C>G (PKD1)
XR_932870.1:n.11126C>G (PKD1)
XR_933000.1:n.90-313G>C (PKD1-AS1)
XR_933001.1:n.180-313G>C (PKD1-AS1)
XR_933002.1:n.89-313G>C (PKD1-AS1)
XR_933003.1:n.89-313G>C (PKD1-AS1)
NR_135175.1:n.180-313G>C (PKD1-AS1)
XM_005255370.3:c.8128C>G (PKD1) XP_005255427.1:p.Pro2710Ala
XM_011522528.3:c.11227C>G (PKD1) XP_011520830.1:p.Pro3743Ala
XM_011522529.2:c.11224C>G (PKD1) XP_011520831.1:p.Pro3742Ala
XM_011522537.2:c.8251C>G (PKD1) XP_011520839.1:p.Pro2751Ala
XM_024450298.1:c.11293C>G (PKD1) XP_024306066.1:p.Pro3765Ala
XM_024450299.1:c.11221C>G (PKD1) XP_024306067.1:p.Pro3741Ala
XM_024450300.1:c.11083C>G (PKD1) XP_024306068.1:p.Pro3695Ala
XM_024450301.1:c.9169C>G (PKD1) XP_024306069.1:p.Pro3057Ala
NM_000296.4:c.11170C>G (PKD1) NP_000287.4:p.Pro3724Ala
NM_001009944.3:c.11173C>G (PKD1) MANE Select NP_001009944.3:p.Pro3725Ala