Canonical Allele Identifier: CA7831972
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447988
ClinVar RCV Id: RCV000518272
dbSNP Id: rs746910149

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2109714G>A , CM000678.2:g.2109714G>A GRCh38
NC_000016.9:g.2159715G>A , CM000678.1:g.2159715G>A GRCh37
NC_000016.8:g.2099716G>A NCBI36
NG_008617.1:g.31185C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.5453C>T MANE Select ENSP00000262304.4:p.Ala1818Val
ENST00000262304.8:c.5453C>T ENSP00000262304.4:p.Ala1818Val
ENST00000415938.7:n.310+2626C>T
ENST00000423118.5:c.5453C>T ENSP00000399501.1:p.Ala1818Val
ENST00000468674.5:n.431-364C>T
ENST00000483024.1:n.233+2102C>T
ENST00000483731.5:n.790+2626C>T
ENST00000487932.5:n.140C>T ENSP00000457132.1:p.Ala47Val
ENST00000488185.2:n.473-1356C>T
ENST00000565639.6:n.773+2626C>T
ENST00000568591.5:n.2226+2626C>T ENSP00000457162.1:p.=
ENST00000569983.5:n.421+2626C>T
NM_000296.3:c.5453C>T NP_000287.3:p.Ala1818Val
NM_001009944.2:c.5453C>T NP_001009944.2:p.Ala1818Val
XM_005255370.2:c.2408C>T XP_005255427.1:p.Ala803Val
XM_011522525.1:c.5531C>T XP_011520827.1:p.Ala1844Val
XM_011522526.1:c.5531C>T XP_011520828.1:p.Ala1844Val
XM_011522527.1:c.5531C>T XP_011520829.1:p.Ala1844Val
XM_011522528.1:c.5507C>T XP_011520830.1:p.Ala1836Val
XM_011522529.1:c.5507C>T XP_011520831.1:p.Ala1836Val
XM_011522530.1:c.5477C>T XP_011520832.1:p.Ala1826Val
XM_011522531.1:c.5459C>T XP_011520833.1:p.Ala1820Val
XM_011522532.1:c.5405C>T XP_011520834.1:p.Ala1802Val
XM_011522533.1:c.5324C>T XP_011520835.1:p.Ala1775Val
XM_011522534.1:c.5267C>T XP_011520836.1:p.Ala1756Val
XM_011522535.1:c.3353C>T XP_011520837.1:p.Ala1118Val
XM_011522536.1:c.5531C>T XP_011520838.1:p.Ala1844Val
XM_011522537.1:c.2531C>T XP_011520839.1:p.Ala844Val
XR_932867.1:n.5546C>T
XR_932868.1:n.5546C>T
XR_932869.1:n.5546C>T
XR_932870.1:n.5546C>T
XM_005255370.3:c.2408C>T XP_005255427.1:p.Ala803Val
XM_011522528.3:c.5507C>T XP_011520830.1:p.Ala1836Val
XM_011522529.2:c.5507C>T XP_011520831.1:p.Ala1836Val
XM_011522537.2:c.2531C>T XP_011520839.1:p.Ala844Val
XM_024450298.1:c.5573C>T XP_024306066.1:p.Ala1858Val
XM_024450299.1:c.5501C>T XP_024306067.1:p.Ala1834Val
XM_024450300.1:c.5363C>T XP_024306068.1:p.Ala1788Val
XM_024450301.1:c.3449C>T XP_024306069.1:p.Ala1150Val
NM_000296.4:c.5453C>T NP_000287.4:p.Ala1818Val
NM_001009944.3:c.5453C>T MANE Select NP_001009944.3:p.Ala1818Val