Canonical Allele Identifier: CA2202021053
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092499C= , CM000678.2:g.2092499C= GRCh38
NC_000016.9:g.2142500C= , CM000678.1:g.2142500C= GRCh37
NC_000016.8:g.2082501C= NCBI36
NG_008617.1:g.50722G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11250G= (PKD1) MANE Select ENSP00000262304.4:p.Arg3750=
ENST00000262304.8:c.11250G= (PKD1) ENSP00000262304.4:p.Arg3750=
ENST00000423118.5:c.11247G= (PKD1) ENSP00000399501.1:p.Arg3749=
ENST00000485120.1:n.99G= (PKD1)
ENST00000487932.5:c.5812G= (PKD1) ENSP00000457132.1:n.5812G=
ENST00000562425.1:c.363G= (PKD1)
ENST00000567355.1:n.413G= (PKD1)
NM_000296.3:c.11247G= (PKD1) NP_000287.3:p.Arg3749=
NM_001009944.2:c.11250G= (PKD1) NP_001009944.2:p.Arg3750=
XM_005255370.2:c.8205G= (PKD1) XP_005255427.1:p.Arg2735=
XM_011522525.1:c.11328G= (PKD1) XP_011520827.1:p.Arg3776=
XM_011522526.1:c.11325G= (PKD1) XP_011520828.1:p.Arg3775=
XM_011522527.1:c.11310G= (PKD1) XP_011520829.1:p.Arg3770=
XM_011522528.1:c.11304G= (PKD1) XP_011520830.1:p.Arg3768=
XM_011522529.1:c.11301G= (PKD1) XP_011520831.1:p.Arg3767=
XM_011522530.1:c.11274G= (PKD1) XP_011520832.1:p.Arg3758=
XM_011522531.1:c.11256G= (PKD1) XP_011520833.1:p.Arg3752=
XM_011522532.1:c.11202G= (PKD1) XP_011520834.1:p.Arg3734=
XM_011522533.1:c.11121G= (PKD1) XP_011520835.1:p.Arg3707=
XM_011522534.1:c.11064G= (PKD1) XP_011520836.1:p.Arg3688=
XM_011522535.1:c.9150G= (PKD1) XP_011520837.1:p.Arg3050=
XM_011522537.1:c.8328G= (PKD1) XP_011520839.1:p.Arg2776=
XR_932867.1:n.11343G= (PKD1)
XR_932868.1:n.11110-311G= (PKD1)
XR_932869.1:n.11110-311G= (PKD1)
XR_932870.1:n.11203G= (PKD1)
XR_933000.1:n.90-390C= (PKD1-AS1)
XR_933001.1:n.180-390C= (PKD1-AS1)
XR_933002.1:n.89-390C= (PKD1-AS1)
XR_933003.1:n.89-390C= (PKD1-AS1)
NR_135175.1:n.180-390C= (PKD1-AS1)
XM_005255370.3:c.8205G= (PKD1) XP_005255427.1:p.Arg2735=
XM_011522528.3:c.11304G= (PKD1) XP_011520830.1:p.Arg3768=
XM_011522529.2:c.11301G= (PKD1) XP_011520831.1:p.Arg3767=
XM_011522537.2:c.8328G= (PKD1) XP_011520839.1:p.Arg2776=
XM_024450298.1:c.11370G= (PKD1) XP_024306066.1:p.Arg3790=
XM_024450299.1:c.11298G= (PKD1) XP_024306067.1:p.Arg3766=
XM_024450300.1:c.11160G= (PKD1) XP_024306068.1:p.Arg3720=
XM_024450301.1:c.9246G= (PKD1) XP_024306069.1:p.Arg3082=
NM_000296.4:c.11247G= (PKD1) NP_000287.4:p.Arg3749=
NM_001009944.3:c.11250G= (PKD1) MANE Select NP_001009944.3:p.Arg3750=