Canonical Allele Identifier: CA2202021179
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092528T= , CM000678.2:g.2092528T= GRCh38
NC_000016.9:g.2142529T= , CM000678.1:g.2142529T= GRCh37
NC_000016.8:g.2082530T= NCBI36
NG_008617.1:g.50693A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11221A= (PKD1) MANE Select ENSP00000262304.4:p.Ser3741=
ENST00000262304.8:c.11221A= (PKD1) ENSP00000262304.4:p.Ser3741=
ENST00000423118.5:c.11218A= (PKD1) ENSP00000399501.1:p.Ser3740=
ENST00000485120.1:n.70A= (PKD1)
ENST00000487932.5:c.5783A= (PKD1) ENSP00000457132.1:n.5783A=
ENST00000562425.1:c.334A= (PKD1)
ENST00000567355.1:n.384A= (PKD1)
NM_000296.3:c.11218A= (PKD1) NP_000287.3:p.Ser3740=
NM_001009944.2:c.11221A= (PKD1) NP_001009944.2:p.Ser3741=
XM_005255370.2:c.8176A= (PKD1) XP_005255427.1:p.Ser2726=
XM_011522525.1:c.11299A= (PKD1) XP_011520827.1:p.Ser3767=
XM_011522526.1:c.11296A= (PKD1) XP_011520828.1:p.Ser3766=
XM_011522527.1:c.11281A= (PKD1) XP_011520829.1:p.Ser3761=
XM_011522528.1:c.11275A= (PKD1) XP_011520830.1:p.Ser3759=
XM_011522529.1:c.11272A= (PKD1) XP_011520831.1:p.Ser3758=
XM_011522530.1:c.11245A= (PKD1) XP_011520832.1:p.Ser3749=
XM_011522531.1:c.11227A= (PKD1) XP_011520833.1:p.Ser3743=
XM_011522532.1:c.11173A= (PKD1) XP_011520834.1:p.Ser3725=
XM_011522533.1:c.11092A= (PKD1) XP_011520835.1:p.Ser3698=
XM_011522534.1:c.11035A= (PKD1) XP_011520836.1:p.Ser3679=
XM_011522535.1:c.9121A= (PKD1) XP_011520837.1:p.Ser3041=
XM_011522537.1:c.8299A= (PKD1) XP_011520839.1:p.Ser2767=
XR_932867.1:n.11314A= (PKD1)
XR_932868.1:n.11110-340A= (PKD1)
XR_932869.1:n.11110-340A= (PKD1)
XR_932870.1:n.11174A= (PKD1)
XR_933000.1:n.90-361T= (PKD1-AS1)
XR_933001.1:n.180-361T= (PKD1-AS1)
XR_933002.1:n.89-361T= (PKD1-AS1)
XR_933003.1:n.89-361T= (PKD1-AS1)
NR_135175.1:n.180-361T= (PKD1-AS1)
XM_005255370.3:c.8176A= (PKD1) XP_005255427.1:p.Ser2726=
XM_011522528.3:c.11275A= (PKD1) XP_011520830.1:p.Ser3759=
XM_011522529.2:c.11272A= (PKD1) XP_011520831.1:p.Ser3758=
XM_011522537.2:c.8299A= (PKD1) XP_011520839.1:p.Ser2767=
XM_024450298.1:c.11341A= (PKD1) XP_024306066.1:p.Ser3781=
XM_024450299.1:c.11269A= (PKD1) XP_024306067.1:p.Ser3757=
XM_024450300.1:c.11131A= (PKD1) XP_024306068.1:p.Ser3711=
XM_024450301.1:c.9217A= (PKD1) XP_024306069.1:p.Ser3073=
NM_000296.4:c.11218A= (PKD1) NP_000287.4:p.Ser3740=
NM_001009944.3:c.11221A= (PKD1) MANE Select NP_001009944.3:p.Ser3741=