Canonical Allele Identifier: CA394339276
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2093710A>G , CM000678.2:g.2093710A>G GRCh38
NC_000016.9:g.2143711A>G , CM000678.1:g.2143711A>G GRCh37
NC_000016.8:g.2083712A>G NCBI36
NG_008617.1:g.49511T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10850T>C (PKD1) MANE Select ENSP00000262304.4:p.Leu3617Pro
ENST00000262304.8:c.10850T>C (PKD1) ENSP00000262304.4:p.Leu3617Pro
ENST00000423118.5:c.10847T>C (PKD1) ENSP00000399501.1:p.Leu3616Pro
ENST00000472659.1:n.287T>C (PKD1)
ENST00000487932.5:c.5412T>C (PKD1) ENSP00000457132.1:n.5412T>C
ENST00000562425.1:c.103T>C (PKD1)
ENST00000568796.1:n.92T>C (PKD1)
NM_000296.3:c.10847T>C (PKD1) NP_000287.3:p.Leu3616Pro
NM_001009944.2:c.10850T>C (PKD1) NP_001009944.2:p.Leu3617Pro
XM_005255370.2:c.7805T>C (PKD1) XP_005255427.1:p.Leu2602Pro
XM_011522525.1:c.10928T>C (PKD1) XP_011520827.1:p.Leu3643Pro
XM_011522526.1:c.10925T>C (PKD1) XP_011520828.1:p.Leu3642Pro
XM_011522527.1:c.10910T>C (PKD1) XP_011520829.1:p.Leu3637Pro
XM_011522528.1:c.10904T>C (PKD1) XP_011520830.1:p.Leu3635Pro
XM_011522529.1:c.10901T>C (PKD1) XP_011520831.1:p.Leu3634Pro
XM_011522530.1:c.10874T>C (PKD1) XP_011520832.1:p.Leu3625Pro
XM_011522531.1:c.10856T>C (PKD1) XP_011520833.1:p.Leu3619Pro
XM_011522532.1:c.10802T>C (PKD1) XP_011520834.1:p.Leu3601Pro
XM_011522533.1:c.10721T>C (PKD1) XP_011520835.1:p.Leu3574Pro
XM_011522534.1:c.10664T>C (PKD1) XP_011520836.1:p.Leu3555Pro
XM_011522535.1:c.8750T>C (PKD1) XP_011520837.1:p.Leu2917Pro
XM_011522537.1:c.7928T>C (PKD1) XP_011520839.1:p.Leu2643Pro
XR_932867.1:n.10943T>C (PKD1)
XR_932868.1:n.10943T>C (PKD1)
XR_932869.1:n.10943T>C (PKD1)
XR_932870.1:n.10943T>C (PKD1)
XR_933000.1:n.213+698A>G (PKD1-AS1)
XR_933001.1:n.303+698A>G (PKD1-AS1)
XR_933002.1:n.212+698A>G (PKD1-AS1)
XR_933003.1:n.212+698A>G (PKD1-AS1)
NR_135175.1:n.303+698A>G (PKD1-AS1)
XM_005255370.3:c.7805T>C (PKD1) XP_005255427.1:p.Leu2602Pro
XM_011522528.3:c.10904T>C (PKD1) XP_011520830.1:p.Leu3635Pro
XM_011522529.2:c.10901T>C (PKD1) XP_011520831.1:p.Leu3634Pro
XM_011522537.2:c.7928T>C (PKD1) XP_011520839.1:p.Leu2643Pro
XM_024450298.1:c.10970T>C (PKD1) XP_024306066.1:p.Leu3657Pro
XM_024450299.1:c.10898T>C (PKD1) XP_024306067.1:p.Leu3633Pro
XM_024450300.1:c.10760T>C (PKD1) XP_024306068.1:p.Leu3587Pro
XM_024450301.1:c.8846T>C (PKD1) XP_024306069.1:p.Leu2949Pro
NM_000296.4:c.10847T>C (PKD1) NP_000287.4:p.Leu3616Pro
NM_001009944.3:c.10850T>C (PKD1) MANE Select NP_001009944.3:p.Leu3617Pro