Canonical Allele Identifier: CA2202026124
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094109G= , CM000678.2:g.2094109G= GRCh38
NC_000016.9:g.2144110G= , CM000678.1:g.2144110G= GRCh37
NC_000016.8:g.2084111G= NCBI36
NG_008617.1:g.49112C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10601C= (PKD1) MANE Select ENSP00000262304.4:p.Ala3534=
ENST00000262304.8:c.10601C= (PKD1) ENSP00000262304.4:p.Ala3534=
ENST00000423118.5:c.10598C= (PKD1) ENSP00000399501.1:p.Ala3533=
ENST00000472659.1:n.38C= (PKD1)
ENST00000487932.5:c.5163C= (PKD1) ENSP00000457132.1:n.5163C=
NM_000296.3:c.10598C= (PKD1) NP_000287.3:p.Ala3533=
NM_001009944.2:c.10601C= (PKD1) NP_001009944.2:p.Ala3534=
XM_005255370.2:c.7556C= (PKD1) XP_005255427.1:p.Ala2519=
XM_011522525.1:c.10679C= (PKD1) XP_011520827.1:p.Ala3560=
XM_011522526.1:c.10676C= (PKD1) XP_011520828.1:p.Ala3559=
XM_011522527.1:c.10661C= (PKD1) XP_011520829.1:p.Ala3554=
XM_011522528.1:c.10655C= (PKD1) XP_011520830.1:p.Ala3552=
XM_011522529.1:c.10652C= (PKD1) XP_011520831.1:p.Ala3551=
XM_011522530.1:c.10625C= (PKD1) XP_011520832.1:p.Ala3542=
XM_011522531.1:c.10607C= (PKD1) XP_011520833.1:p.Ala3536=
XM_011522532.1:c.10553C= (PKD1) XP_011520834.1:p.Ala3518=
XM_011522533.1:c.10472C= (PKD1) XP_011520835.1:p.Ala3491=
XM_011522534.1:c.10415C= (PKD1) XP_011520836.1:p.Ala3472=
XM_011522535.1:c.8501C= (PKD1) XP_011520837.1:p.Ala2834=
XM_011522537.1:c.7679C= (PKD1) XP_011520839.1:p.Ala2560=
XR_932867.1:n.10694C= (PKD1)
XR_932868.1:n.10694C= (PKD1)
XR_932869.1:n.10694C= (PKD1)
XR_932870.1:n.10694C= (PKD1)
XR_933000.1:n.214-569G= (PKD1-AS1)
XR_933001.1:n.304-612G= (PKD1-AS1)
XR_933002.1:n.213-569G= (PKD1-AS1)
XR_933003.1:n.213-612G= (PKD1-AS1)
NR_135175.1:n.304-612G= (PKD1-AS1)
XM_005255370.3:c.7556C= (PKD1) XP_005255427.1:p.Ala2519=
XM_011522528.3:c.10655C= (PKD1) XP_011520830.1:p.Ala3552=
XM_011522529.2:c.10652C= (PKD1) XP_011520831.1:p.Ala3551=
XM_011522537.2:c.7679C= (PKD1) XP_011520839.1:p.Ala2560=
XM_024450298.1:c.10721C= (PKD1) XP_024306066.1:p.Ala3574=
XM_024450299.1:c.10649C= (PKD1) XP_024306067.1:p.Ala3550=
XM_024450300.1:c.10511C= (PKD1) XP_024306068.1:p.Ala3504=
XM_024450301.1:c.8597C= (PKD1) XP_024306069.1:p.Ala2866=
NM_000296.4:c.10598C= (PKD1) NP_000287.4:p.Ala3533=
NM_001009944.3:c.10601C= (PKD1) MANE Select NP_001009944.3:p.Ala3534=