Canonical Allele Identifier: CA493044834
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091861G>A , CM000678.2:g.2091861G>A GRCh38
NC_000016.9:g.2141862G>A , CM000678.1:g.2141862G>A GRCh37
NC_000016.8:g.2081863G>A NCBI36
NG_008617.1:g.51360C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11457C>T (PKD1) MANE Select ENSP00000262304.4:p.Tyr3819=
ENST00000262304.8:c.11457C>T (PKD1) ENSP00000262304.4:p.Tyr3819=
ENST00000423118.5:c.11454C>T (PKD1) ENSP00000399501.1:p.Tyr3818=
ENST00000485120.1:n.446C>T (PKD1)
ENST00000487932.5:c.6019C>T (PKD1) ENSP00000457132.1:n.6019C>T
ENST00000561668.5:c.125-7C>T (PKD1)
ENST00000562425.1:c.570C>T (PKD1)
ENST00000564313.1:n.153C>T (PKD1)
NM_000296.3:c.11454C>T (PKD1) NP_000287.3:p.Tyr3818=
NM_001009944.2:c.11457C>T (PKD1) NP_001009944.2:p.Tyr3819=
XM_005255370.2:c.8412C>T (PKD1) XP_005255427.1:p.Tyr2804=
XM_011522525.1:c.11535C>T (PKD1) XP_011520827.1:p.Tyr3845=
XM_011522526.1:c.11532C>T (PKD1) XP_011520828.1:p.Tyr3844=
XM_011522527.1:c.11517C>T (PKD1) XP_011520829.1:p.Tyr3839=
XM_011522528.1:c.11511C>T (PKD1) XP_011520830.1:p.Tyr3837=
XM_011522529.1:c.11508C>T (PKD1) XP_011520831.1:p.Tyr3836=
XM_011522530.1:c.11481C>T (PKD1) XP_011520832.1:p.Tyr3827=
XM_011522531.1:c.11463C>T (PKD1) XP_011520833.1:p.Tyr3821=
XM_011522532.1:c.11409C>T (PKD1) XP_011520834.1:p.Tyr3803=
XM_011522533.1:c.11328C>T (PKD1) XP_011520835.1:p.Tyr3776=
XM_011522534.1:c.11271C>T (PKD1) XP_011520836.1:p.Tyr3757=
XM_011522535.1:c.9357C>T (PKD1) XP_011520837.1:p.Tyr3119=
XM_011522537.1:c.8535C>T (PKD1) XP_011520839.1:p.Tyr2845=
XR_932867.1:n.11550C>T (PKD1)
XR_932868.1:n.11297C>T (PKD1)
XR_932869.1:n.11297C>T (PKD1)
XR_932870.1:n.11410C>T (PKD1)
XR_933000.1:n.89+247G>A (PKD1-AS1)
XR_933001.1:n.179+247G>A (PKD1-AS1)
XR_933002.1:n.88+253G>A (PKD1-AS1)
XR_933003.1:n.88+253G>A (PKD1-AS1)
NR_135175.1:n.179+247G>A (PKD1-AS1)
XM_005255370.3:c.8412C>T (PKD1) XP_005255427.1:p.Tyr2804=
XM_011522528.3:c.11511C>T (PKD1) XP_011520830.1:p.Tyr3837=
XM_011522529.2:c.11508C>T (PKD1) XP_011520831.1:p.Tyr3836=
XM_011522537.2:c.8535C>T (PKD1) XP_011520839.1:p.Tyr2845=
XM_024450298.1:c.11577C>T (PKD1) XP_024306066.1:p.Tyr3859=
XM_024450299.1:c.11505C>T (PKD1) XP_024306067.1:p.Tyr3835=
XM_024450300.1:c.11367C>T (PKD1) XP_024306068.1:p.Tyr3789=
XM_024450301.1:c.9453C>T (PKD1) XP_024306069.1:p.Tyr3151=
NM_000296.4:c.11454C>T (PKD1) NP_000287.4:p.Tyr3818=
NM_001009944.3:c.11457C>T (PKD1) MANE Select NP_001009944.3:p.Tyr3819=