Canonical Allele Identifier: CA7829310
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2093011C>T , CM000678.2:g.2093011C>T GRCh38
NC_000016.9:g.2143012C>T , CM000678.1:g.2143012C>T GRCh37
NC_000016.8:g.2083013C>T NCBI36
NG_008617.1:g.50210G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11099G>A (PKD1) MANE Select ENSP00000262304.4:p.Arg3700His
ENST00000262304.8:c.11099G>A (PKD1) ENSP00000262304.4:p.Arg3700His
ENST00000423118.5:c.11096G>A (PKD1) ENSP00000399501.1:p.Arg3699His
ENST00000472659.1:n.536G>A (PKD1)
ENST00000487932.5:c.5661G>A (PKD1) ENSP00000457132.1:n.5661G>A
ENST00000562425.1:c.270-419G>A (PKD1)
NM_000296.3:c.11096G>A (PKD1) NP_000287.3:p.Arg3699His
NM_001009944.2:c.11099G>A (PKD1) NP_001009944.2:p.Arg3700His
XM_005255370.2:c.8054G>A (PKD1) XP_005255427.1:p.Arg2685His
XM_011522525.1:c.11177G>A (PKD1) XP_011520827.1:p.Arg3726His
XM_011522526.1:c.11174G>A (PKD1) XP_011520828.1:p.Arg3725His
XM_011522527.1:c.11159G>A (PKD1) XP_011520829.1:p.Arg3720His
XM_011522528.1:c.11153G>A (PKD1) XP_011520830.1:p.Arg3718His
XM_011522529.1:c.11150G>A (PKD1) XP_011520831.1:p.Arg3717His
XM_011522530.1:c.11123G>A (PKD1) XP_011520832.1:p.Arg3708His
XM_011522531.1:c.11105G>A (PKD1) XP_011520833.1:p.Arg3702His
XM_011522532.1:c.11051G>A (PKD1) XP_011520834.1:p.Arg3684His
XM_011522533.1:c.10970G>A (PKD1) XP_011520835.1:p.Arg3657His
XM_011522534.1:c.10913G>A (PKD1) XP_011520836.1:p.Arg3638His
XM_011522535.1:c.8999G>A (PKD1) XP_011520837.1:p.Arg3000His
XM_011522537.1:c.8177G>A (PKD1) XP_011520839.1:p.Arg2726His
XR_932867.1:n.11192G>A (PKD1)
XR_932868.1:n.11109+533G>A (PKD1)
XR_932869.1:n.11109+533G>A (PKD1)
XR_932870.1:n.11110-419G>A (PKD1)
XR_933000.1:n.212C>T (PKD1-AS1)
XR_933001.1:n.302C>T (PKD1-AS1)
XR_933002.1:n.211C>T (PKD1-AS1)
XR_933003.1:n.211C>T (PKD1-AS1)
NR_135175.1:n.302C>T (PKD1-AS1)
XM_005255370.3:c.8054G>A (PKD1) XP_005255427.1:p.Arg2685His
XM_011522528.3:c.11153G>A (PKD1) XP_011520830.1:p.Arg3718His
XM_011522529.2:c.11150G>A (PKD1) XP_011520831.1:p.Arg3717His
XM_011522537.2:c.8177G>A (PKD1) XP_011520839.1:p.Arg2726His
XM_024450298.1:c.11219G>A (PKD1) XP_024306066.1:p.Arg3740His
XM_024450299.1:c.11147G>A (PKD1) XP_024306067.1:p.Arg3716His
XM_024450300.1:c.11009G>A (PKD1) XP_024306068.1:p.Arg3670His
XM_024450301.1:c.9095G>A (PKD1) XP_024306069.1:p.Arg3032His
NM_000296.4:c.11096G>A (PKD1) NP_000287.4:p.Arg3699His
NM_001009944.3:c.11099G>A (PKD1) MANE Select NP_001009944.3:p.Arg3700His