Canonical Allele Identifier: CA16043506
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373937
dbSNP Id: rs1057518783
gnomAD v4: 16-2110081-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2110081G>A , CM000678.2:g.2110081G>A GRCh38
NC_000016.9:g.2160082G>A , CM000678.1:g.2160082G>A GRCh37
NC_000016.8:g.2100083G>A NCBI36
NG_008617.1:g.30818C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.5086C>T MANE Select ENSP00000262304.4:p.Gln1696Ter
ENST00000262304.8:c.5086C>T ENSP00000262304.4:p.Gln1696Ter
ENST00000415938.7:n.310+2259C>T
ENST00000423118.5:c.5086C>T ENSP00000399501.1:p.Gln1696Ter
ENST00000468674.5:n.431-731C>T
ENST00000483024.1:c.233+1735C>T
ENST00000483731.5:n.790+2259C>T
ENST00000488185.2:c.473-1723C>T
ENST00000565639.6:n.773+2259C>T
ENST00000568591.5:c.2226+2259C>T ENSP00000457162.1:n.2226+2259C>T
ENST00000569983.5:n.421+2259C>T
NM_000296.3:c.5086C>T NP_000287.3:p.Gln1696Ter
NM_001009944.2:c.5086C>T NP_001009944.2:p.Gln1696Ter
XM_005255370.2:c.2041C>T XP_005255427.1:p.Gln681Ter
XM_011522525.1:c.5164C>T XP_011520827.1:p.Gln1722Ter
XM_011522526.1:c.5164C>T XP_011520828.1:p.Gln1722Ter
XM_011522527.1:c.5164C>T XP_011520829.1:p.Gln1722Ter
XM_011522528.1:c.5140C>T XP_011520830.1:p.Gln1714Ter
XM_011522529.1:c.5140C>T XP_011520831.1:p.Gln1714Ter
XM_011522530.1:c.5110C>T XP_011520832.1:p.Gln1704Ter
XM_011522531.1:c.5092C>T XP_011520833.1:p.Gln1698Ter
XM_011522532.1:c.5038C>T XP_011520834.1:p.Gln1680Ter
XM_011522533.1:c.4957C>T XP_011520835.1:p.Gln1653Ter
XM_011522534.1:c.4900C>T XP_011520836.1:p.Gln1634Ter
XM_011522535.1:c.2986C>T XP_011520837.1:p.Gln996Ter
XM_011522536.1:c.5164C>T XP_011520838.1:p.Gln1722Ter
XM_011522537.1:c.2164C>T XP_011520839.1:p.Gln722Ter
XR_932867.1:n.5179C>T
XR_932868.1:n.5179C>T
XR_932869.1:n.5179C>T
XR_932870.1:n.5179C>T
XM_005255370.3:c.2041C>T XP_005255427.1:p.Gln681Ter
XM_011522528.3:c.5140C>T XP_011520830.1:p.Gln1714Ter
XM_011522529.2:c.5140C>T XP_011520831.1:p.Gln1714Ter
XM_011522537.2:c.2164C>T XP_011520839.1:p.Gln722Ter
XM_024450298.1:c.5206C>T XP_024306066.1:p.Gln1736Ter
XM_024450299.1:c.5134C>T XP_024306067.1:p.Gln1712Ter
XM_024450300.1:c.4996C>T XP_024306068.1:p.Gln1666Ter
XM_024450301.1:c.3082C>T XP_024306069.1:p.Gln1028Ter
NM_000296.4:c.5086C>T NP_000287.4:p.Gln1696Ter
NM_001009944.3:c.5086C>T MANE Select NP_001009944.3:p.Gln1696Ter