Canonical Allele Identifier: CA16042982
Gene: PKD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372821
ClinVar RCV Id: RCV000413480
dbSNP Id: rs1057518001

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2116916C>A , CM000678.2:g.2116916C>A GRCh38
NC_000016.9:g.2166917C>A , CM000678.1:g.2166917C>A GRCh37
NC_000016.8:g.2106918C>A NCBI36
NG_008617.1:g.23983G>T

Transcript Alleles

HGVS Amino-acid change
NM_000296.3:c.1523G>T VV NP_000287.3:p.Cys508Phe
NM_001009944.2:c.1523G>T VV NP_001009944.2:p.Cys508Phe
XM_011522525.1:c.1577G>T XP_011520827.1:p.Cys526Phe
XM_011522526.1:c.1577G>T XP_011520828.1:p.Cys526Phe
XM_011522527.1:c.1577G>T XP_011520829.1:p.Cys526Phe
XM_011522528.1:c.1577G>T XP_011520830.1:p.Cys526Phe
XM_011522529.1:c.1577G>T XP_011520831.1:p.Cys526Phe
XM_011522530.1:c.1523G>T XP_011520832.1:p.Cys508Phe
XM_011522531.1:c.1505G>T XP_011520833.1:p.Cys502Phe
XM_011522532.1:c.1451G>T XP_011520834.1:p.Cys484Phe
XM_011522533.1:c.1370G>T XP_011520835.1:p.Cys457Phe
XM_011522534.1:c.1313G>T XP_011520836.1:p.Cys438Phe
XM_011522536.1:c.1577G>T XP_011520838.1:p.Cys526Phe
XR_932867.1:n.1592G>T
XR_932868.1:n.1592G>T
XR_932869.1:n.1592G>T
XR_932870.1:n.1592G>T
XM_011522528.3:c.1577G>T
XM_011522529.2:c.1577G>T
XM_024450298.1:c.1523G>T XP_024306066.1:p.Cys508Phe
XM_024450299.1:c.1451G>T XP_024306067.1:p.Cys484Phe
XM_024450300.1:c.1313G>T XP_024306068.1:p.Cys438Phe
ENST00000262304.8:c.1523G>T ENSP00000262304.4:p.Cys508Phe
ENST00000423118.5:c.1523G>T ENSP00000399501.1:p.Cys508Phe
ENST00000488185.2:n.472+573G>T
ENST00000568591.5:n.454G>T ENSP00000457162.1:p.Ala152Ser
ENST00000570150.1:n.519-272G>T