Canonical Allele Identifier: CA394333915
Community Standard Title: NM_001009944.3(PKD1):c.11385G>T (p.Trp3795Cys)
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092073C>A , CM000678.2:g.2092073C>A GRCh38
NC_000016.9:g.2142074C>A , CM000678.1:g.2142074C>A GRCh37
NC_000016.8:g.2082075C>A NCBI36
NG_008617.1:g.51148G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.11385G>T (PKD1) MANE Select NP_001009944.3:p.Trp3795Cys
ENST00000262304.9:c.11385G>T (PKD1) MANE Select ENSP00000262304.4:p.Trp3795Cys
NM_000296.3:c.11382G>T (PKD1) NP_000287.3:p.Trp3794Cys
NM_000296.4:c.11382G>T (PKD1) NP_000287.4:p.Trp3794Cys
NM_001009944.2:c.11385G>T (PKD1) NP_001009944.2:p.Trp3795Cys
NR_135175.1:n.179+459C>A (PKD1-AS1)
ENST00000262304.8:c.11385G>T (PKD1) ENSP00000262304.4:p.Trp3795Cys
ENST00000423118.5:c.11382G>T (PKD1) ENSP00000399501.1:p.Trp3794Cys
ENST00000485120.1:n.234G>T (PKD1)
ENST00000487932.5:c.5947G>T (PKD1) ENSP00000457132.1:n.5947G>T
ENST00000561668.5:c.98G>T (PKD1)
ENST00000562425.1:c.498G>T (PKD1)
ENST00000567355.1:n.548G>T (PKD1)
XM_005255370.2:c.8340G>T (PKD1) XP_005255427.1:p.Trp2780Cys
XM_005255370.3:c.8340G>T (PKD1) XP_005255427.1:p.Trp2780Cys
XM_011522525.1:c.11463G>T (PKD1) XP_011520827.1:p.Trp3821Cys
XM_011522526.1:c.11460G>T (PKD1) XP_011520828.1:p.Trp3820Cys
XM_011522527.1:c.11445G>T (PKD1) XP_011520829.1:p.Trp3815Cys
XM_011522528.1:c.11439G>T (PKD1) XP_011520830.1:p.Trp3813Cys
XM_011522528.3:c.11439G>T (PKD1) XP_011520830.1:p.Trp3813Cys
XM_011522529.1:c.11436G>T (PKD1) XP_011520831.1:p.Trp3812Cys
XM_011522529.2:c.11436G>T (PKD1) XP_011520831.1:p.Trp3812Cys
XM_011522530.1:c.11409G>T (PKD1) XP_011520832.1:p.Trp3803Cys
XM_011522531.1:c.11391G>T (PKD1) XP_011520833.1:p.Trp3797Cys
XM_011522532.1:c.11337G>T (PKD1) XP_011520834.1:p.Trp3779Cys
XM_011522533.1:c.11256G>T (PKD1) XP_011520835.1:p.Trp3752Cys
XM_011522534.1:c.11199G>T (PKD1) XP_011520836.1:p.Trp3733Cys
XM_011522535.1:c.9285G>T (PKD1) XP_011520837.1:p.Trp3095Cys
XM_011522537.1:c.8463G>T (PKD1) XP_011520839.1:p.Trp2821Cys
XM_011522537.2:c.8463G>T (PKD1) XP_011520839.1:p.Trp2821Cys
XM_024450298.1:c.11505G>T (PKD1) XP_024306066.1:p.Trp3835Cys
XM_024450299.1:c.11433G>T (PKD1) XP_024306067.1:p.Trp3811Cys
XM_024450300.1:c.11295G>T (PKD1) XP_024306068.1:p.Trp3765Cys
XM_024450301.1:c.9381G>T (PKD1) XP_024306069.1:p.Trp3127Cys
XR_932867.1:n.11478G>T (PKD1)
XR_932868.1:n.11225G>T (PKD1)
XR_932869.1:n.11225G>T (PKD1)
XR_932870.1:n.11338G>T (PKD1)
XR_933000.1:n.89+459C>A (PKD1-AS1)
XR_933001.1:n.179+459C>A (PKD1-AS1)
XR_933002.1:n.88+465C>A (PKD1-AS1)
XR_933003.1:n.88+465C>A (PKD1-AS1)