Canonical Allele Identifier: CA394336452
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092572C>A , CM000678.2:g.2092572C>A GRCh38
NC_000016.9:g.2142573C>A , CM000678.1:g.2142573C>A GRCh37
NC_000016.8:g.2082574C>A NCBI36
NG_008617.1:g.50649G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11177G>T (PKD1) MANE Select ENSP00000262304.4:p.Trp3726Leu
ENST00000262304.8:c.11177G>T (PKD1) ENSP00000262304.4:p.Trp3726Leu
ENST00000423118.5:c.11174G>T (PKD1) ENSP00000399501.1:p.Trp3725Leu
ENST00000485120.1:n.26G>T (PKD1)
ENST00000487932.5:c.5739G>T (PKD1) ENSP00000457132.1:n.5739G>T
ENST00000562425.1:c.290G>T (PKD1)
ENST00000567355.1:n.340G>T (PKD1)
NM_000296.3:c.11174G>T (PKD1) NP_000287.3:p.Trp3725Leu
NM_001009944.2:c.11177G>T (PKD1) NP_001009944.2:p.Trp3726Leu
XM_005255370.2:c.8132G>T (PKD1) XP_005255427.1:p.Trp2711Leu
XM_011522525.1:c.11255G>T (PKD1) XP_011520827.1:p.Trp3752Leu
XM_011522526.1:c.11252G>T (PKD1) XP_011520828.1:p.Trp3751Leu
XM_011522527.1:c.11237G>T (PKD1) XP_011520829.1:p.Trp3746Leu
XM_011522528.1:c.11231G>T (PKD1) XP_011520830.1:p.Trp3744Leu
XM_011522529.1:c.11228G>T (PKD1) XP_011520831.1:p.Trp3743Leu
XM_011522530.1:c.11201G>T (PKD1) XP_011520832.1:p.Trp3734Leu
XM_011522531.1:c.11183G>T (PKD1) XP_011520833.1:p.Trp3728Leu
XM_011522532.1:c.11129G>T (PKD1) XP_011520834.1:p.Trp3710Leu
XM_011522533.1:c.11048G>T (PKD1) XP_011520835.1:p.Trp3683Leu
XM_011522534.1:c.10991G>T (PKD1) XP_011520836.1:p.Trp3664Leu
XM_011522535.1:c.9077G>T (PKD1) XP_011520837.1:p.Trp3026Leu
XM_011522537.1:c.8255G>T (PKD1) XP_011520839.1:p.Trp2752Leu
XR_932867.1:n.11270G>T (PKD1)
XR_932868.1:n.11110-384G>T (PKD1)
XR_932869.1:n.11110-384G>T (PKD1)
XR_932870.1:n.11130G>T (PKD1)
XR_933000.1:n.90-317C>A (PKD1-AS1)
XR_933001.1:n.180-317C>A (PKD1-AS1)
XR_933002.1:n.89-317C>A (PKD1-AS1)
XR_933003.1:n.89-317C>A (PKD1-AS1)
NR_135175.1:n.180-317C>A (PKD1-AS1)
XM_005255370.3:c.8132G>T (PKD1) XP_005255427.1:p.Trp2711Leu
XM_011522528.3:c.11231G>T (PKD1) XP_011520830.1:p.Trp3744Leu
XM_011522529.2:c.11228G>T (PKD1) XP_011520831.1:p.Trp3743Leu
XM_011522537.2:c.8255G>T (PKD1) XP_011520839.1:p.Trp2752Leu
XM_024450298.1:c.11297G>T (PKD1) XP_024306066.1:p.Trp3766Leu
XM_024450299.1:c.11225G>T (PKD1) XP_024306067.1:p.Trp3742Leu
XM_024450300.1:c.11087G>T (PKD1) XP_024306068.1:p.Trp3696Leu
XM_024450301.1:c.9173G>T (PKD1) XP_024306069.1:p.Trp3058Leu
NM_000296.4:c.11174G>T (PKD1) NP_000287.4:p.Trp3725Leu
NM_001009944.3:c.11177G>T (PKD1) MANE Select NP_001009944.3:p.Trp3726Leu