Canonical Allele Identifier: CA394331847
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091529A>G , CM000678.2:g.2091529A>G GRCh38
NC_000016.9:g.2141530A>G , CM000678.1:g.2141530A>G GRCh37
NC_000016.8:g.2081531A>G NCBI36
NG_008617.1:g.51692T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11606T>C (PKD1) MANE Select ENSP00000262304.4:p.Leu3869Pro
ENST00000262304.8:c.11606T>C (PKD1) ENSP00000262304.4:p.Leu3869Pro
ENST00000423118.5:c.11603T>C (PKD1) ENSP00000399501.1:p.Leu3868Pro
ENST00000485120.1:n.595T>C (PKD1)
ENST00000487932.5:c.6168T>C (PKD1) ENSP00000457132.1:n.6168T>C
ENST00000561668.5:c.267T>C (PKD1)
ENST00000564313.1:n.233+252T>C (PKD1)
NM_000296.3:c.11603T>C (PKD1) NP_000287.3:p.Leu3868Pro
NM_001009944.2:c.11606T>C (PKD1) NP_001009944.2:p.Leu3869Pro
XM_005255370.2:c.8561T>C (PKD1) XP_005255427.1:p.Leu2854Pro
XM_011522525.1:c.11684T>C (PKD1) XP_011520827.1:p.Leu3895Pro
XM_011522526.1:c.11681T>C (PKD1) XP_011520828.1:p.Leu3894Pro
XM_011522527.1:c.11666T>C (PKD1) XP_011520829.1:p.Leu3889Pro
XM_011522528.1:c.11660T>C (PKD1) XP_011520830.1:p.Leu3887Pro
XM_011522529.1:c.11657T>C (PKD1) XP_011520831.1:p.Leu3886Pro
XM_011522530.1:c.11630T>C (PKD1) XP_011520832.1:p.Leu3877Pro
XM_011522531.1:c.11612T>C (PKD1) XP_011520833.1:p.Leu3871Pro
XM_011522532.1:c.11558T>C (PKD1) XP_011520834.1:p.Leu3853Pro
XM_011522533.1:c.11477T>C (PKD1) XP_011520835.1:p.Leu3826Pro
XM_011522534.1:c.11420T>C (PKD1) XP_011520836.1:p.Leu3807Pro
XM_011522535.1:c.9506T>C (PKD1) XP_011520837.1:p.Leu3169Pro
XM_011522537.1:c.8684T>C (PKD1) XP_011520839.1:p.Leu2895Pro
XR_932867.1:n.11630+252T>C (PKD1)
XR_932868.1:n.11446T>C (PKD1)
XR_932869.1:n.11377+252T>C (PKD1)
XR_933000.1:n.4A>G (PKD1-AS1)
XR_933001.1:n.94A>G (PKD1-AS1)
XR_933002.1:n.9A>G (PKD1-AS1)
XR_933003.1:n.9A>G (PKD1-AS1)
NR_135175.1:n.94A>G (PKD1-AS1)
XM_005255370.3:c.8561T>C (PKD1) XP_005255427.1:p.Leu2854Pro
XM_011522528.3:c.11660T>C (PKD1) XP_011520830.1:p.Leu3887Pro
XM_011522529.2:c.11657T>C (PKD1) XP_011520831.1:p.Leu3886Pro
XM_011522537.2:c.8684T>C (PKD1) XP_011520839.1:p.Leu2895Pro
XM_024450298.1:c.11726T>C (PKD1) XP_024306066.1:p.Leu3909Pro
XM_024450299.1:c.11654T>C (PKD1) XP_024306067.1:p.Leu3885Pro
XM_024450300.1:c.11516T>C (PKD1) XP_024306068.1:p.Leu3839Pro
XM_024450301.1:c.9602T>C (PKD1) XP_024306069.1:p.Leu3201Pro
NM_000296.4:c.11603T>C (PKD1) NP_000287.4:p.Leu3868Pro
NM_001009944.3:c.11606T>C (PKD1) MANE Select NP_001009944.3:p.Leu3869Pro