Canonical Allele Identifier: CA394336461
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092573A>C , CM000678.2:g.2092573A>C GRCh38
NC_000016.9:g.2142574A>C , CM000678.1:g.2142574A>C GRCh37
NC_000016.8:g.2082575A>C NCBI36
NG_008617.1:g.50648T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11176T>G (PKD1) MANE Select ENSP00000262304.4:p.Trp3726Gly
ENST00000262304.8:c.11176T>G (PKD1) ENSP00000262304.4:p.Trp3726Gly
ENST00000423118.5:c.11173T>G (PKD1) ENSP00000399501.1:p.Trp3725Gly
ENST00000485120.1:n.25T>G (PKD1)
ENST00000487932.5:c.5738T>G (PKD1) ENSP00000457132.1:n.5738T>G
ENST00000562425.1:c.289T>G (PKD1)
ENST00000567355.1:n.339T>G (PKD1)
NM_000296.3:c.11173T>G (PKD1) NP_000287.3:p.Trp3725Gly
NM_001009944.2:c.11176T>G (PKD1) NP_001009944.2:p.Trp3726Gly
XM_005255370.2:c.8131T>G (PKD1) XP_005255427.1:p.Trp2711Gly
XM_011522525.1:c.11254T>G (PKD1) XP_011520827.1:p.Trp3752Gly
XM_011522526.1:c.11251T>G (PKD1) XP_011520828.1:p.Trp3751Gly
XM_011522527.1:c.11236T>G (PKD1) XP_011520829.1:p.Trp3746Gly
XM_011522528.1:c.11230T>G (PKD1) XP_011520830.1:p.Trp3744Gly
XM_011522529.1:c.11227T>G (PKD1) XP_011520831.1:p.Trp3743Gly
XM_011522530.1:c.11200T>G (PKD1) XP_011520832.1:p.Trp3734Gly
XM_011522531.1:c.11182T>G (PKD1) XP_011520833.1:p.Trp3728Gly
XM_011522532.1:c.11128T>G (PKD1) XP_011520834.1:p.Trp3710Gly
XM_011522533.1:c.11047T>G (PKD1) XP_011520835.1:p.Trp3683Gly
XM_011522534.1:c.10990T>G (PKD1) XP_011520836.1:p.Trp3664Gly
XM_011522535.1:c.9076T>G (PKD1) XP_011520837.1:p.Trp3026Gly
XM_011522537.1:c.8254T>G (PKD1) XP_011520839.1:p.Trp2752Gly
XR_932867.1:n.11269T>G (PKD1)
XR_932868.1:n.11110-385T>G (PKD1)
XR_932869.1:n.11110-385T>G (PKD1)
XR_932870.1:n.11129T>G (PKD1)
XR_933000.1:n.90-316A>C (PKD1-AS1)
XR_933001.1:n.180-316A>C (PKD1-AS1)
XR_933002.1:n.89-316A>C (PKD1-AS1)
XR_933003.1:n.89-316A>C (PKD1-AS1)
NR_135175.1:n.180-316A>C (PKD1-AS1)
XM_005255370.3:c.8131T>G (PKD1) XP_005255427.1:p.Trp2711Gly
XM_011522528.3:c.11230T>G (PKD1) XP_011520830.1:p.Trp3744Gly
XM_011522529.2:c.11227T>G (PKD1) XP_011520831.1:p.Trp3743Gly
XM_011522537.2:c.8254T>G (PKD1) XP_011520839.1:p.Trp2752Gly
XM_024450298.1:c.11296T>G (PKD1) XP_024306066.1:p.Trp3766Gly
XM_024450299.1:c.11224T>G (PKD1) XP_024306067.1:p.Trp3742Gly
XM_024450300.1:c.11086T>G (PKD1) XP_024306068.1:p.Trp3696Gly
XM_024450301.1:c.9172T>G (PKD1) XP_024306069.1:p.Trp3058Gly
NM_000296.4:c.11173T>G (PKD1) NP_000287.4:p.Trp3725Gly
NM_001009944.3:c.11176T>G (PKD1) MANE Select NP_001009944.3:p.Trp3726Gly