Canonical Allele Identifier: CA394336486
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11171G>T (PKD1) MANE Select ENSP00000262304.4:p.Trp3724Leu
ENST00000262304.8:c.11171G>T (PKD1) ENSP00000262304.4:p.Trp3724Leu
ENST00000423118.5:c.11168G>T (PKD1) ENSP00000399501.1:p.Trp3723Leu
ENST00000485120.1:n.20G>T (PKD1)
ENST00000487932.5:c.5733G>T (PKD1) ENSP00000457132.1:n.5733G>T
ENST00000562425.1:c.284G>T (PKD1)
ENST00000567355.1:n.334G>T (PKD1)
NM_000296.3:c.11168G>T (PKD1) NP_000287.3:p.Trp3723Leu
NM_001009944.2:c.11171G>T (PKD1) NP_001009944.2:p.Trp3724Leu
XM_005255370.2:c.8126G>T (PKD1) XP_005255427.1:p.Trp2709Leu
XM_011522525.1:c.11249G>T (PKD1) XP_011520827.1:p.Trp3750Leu
XM_011522526.1:c.11246G>T (PKD1) XP_011520828.1:p.Trp3749Leu
XM_011522527.1:c.11231G>T (PKD1) XP_011520829.1:p.Trp3744Leu
XM_011522528.1:c.11225G>T (PKD1) XP_011520830.1:p.Trp3742Leu
XM_011522529.1:c.11222G>T (PKD1) XP_011520831.1:p.Trp3741Leu
XM_011522530.1:c.11195G>T (PKD1) XP_011520832.1:p.Trp3732Leu
XM_011522531.1:c.11177G>T (PKD1) XP_011520833.1:p.Trp3726Leu
XM_011522532.1:c.11123G>T (PKD1) XP_011520834.1:p.Trp3708Leu
XM_011522533.1:c.11042G>T (PKD1) XP_011520835.1:p.Trp3681Leu
XM_011522534.1:c.10985G>T (PKD1) XP_011520836.1:p.Trp3662Leu
XM_011522535.1:c.9071G>T (PKD1) XP_011520837.1:p.Trp3024Leu
XM_011522537.1:c.8249G>T (PKD1) XP_011520839.1:p.Trp2750Leu
XR_932867.1:n.11264G>T (PKD1)
XR_932868.1:n.11110-390G>T (PKD1)
XR_932869.1:n.11110-390G>T (PKD1)
XR_932870.1:n.11124G>T (PKD1)
XR_933000.1:n.90-311C>A (PKD1-AS1)
XR_933001.1:n.180-311C>A (PKD1-AS1)
XR_933002.1:n.89-311C>A (PKD1-AS1)
XR_933003.1:n.89-311C>A (PKD1-AS1)
NR_135175.1:n.180-311C>A (PKD1-AS1)
XM_005255370.3:c.8126G>T (PKD1) XP_005255427.1:p.Trp2709Leu
XM_011522528.3:c.11225G>T (PKD1) XP_011520830.1:p.Trp3742Leu
XM_011522529.2:c.11222G>T (PKD1) XP_011520831.1:p.Trp3741Leu
XM_011522537.2:c.8249G>T (PKD1) XP_011520839.1:p.Trp2750Leu
XM_024450298.1:c.11291G>T (PKD1) XP_024306066.1:p.Trp3764Leu
XM_024450299.1:c.11219G>T (PKD1) XP_024306067.1:p.Trp3740Leu
XM_024450300.1:c.11081G>T (PKD1) XP_024306068.1:p.Trp3694Leu
XM_024450301.1:c.9167G>T (PKD1) XP_024306069.1:p.Trp3056Leu
NM_000296.4:c.11168G>T (PKD1) NP_000287.4:p.Trp3723Leu
NM_001009944.3:c.11171G>T (PKD1) MANE Select NP_001009944.3:p.Trp3724Leu