Canonical Allele Identifier: CA16043508
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374206
ClinVar RCV Id: RCV000415037 RCV000501988 RCV002510884 RCV002521461
dbSNP Id: rs1057518976
MyVariant Identifiers: chr16:g.2161383T>C (hg19) chr16:g.2111382T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2111382T>C , CM000678.2:g.2111382T>C GRCh38
NC_000016.9:g.2161383T>C , CM000678.1:g.2161383T>C GRCh37
NC_000016.8:g.2101384T>C NCBI36
NG_008617.1:g.29517A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.3785A>G MANE Select ENSP00000262304.4:p.His1262Arg
ENST00000262304.8:c.3785A>G ENSP00000262304.4:p.His1262Arg
ENST00000415938.7:n.310+958A>G
ENST00000423118.5:c.3785A>G ENSP00000399501.1:p.His1262Arg
ENST00000468674.5:n.430+958A>G
ENST00000483024.1:c.233+434A>G
ENST00000483731.5:n.790+958A>G
ENST00000488185.2:c.473-3024A>G
ENST00000565639.6:n.773+958A>G
ENST00000568591.5:c.2226+958A>G ENSP00000457162.1:n.2226+958A>G
ENST00000569983.5:n.421+958A>G
NM_000296.3:c.3785A>G NP_000287.3:p.His1262Arg
NM_001009944.2:c.3785A>G NP_001009944.2:p.His1262Arg
XM_005255370.2:c.740A>G XP_005255427.1:p.His247Arg
XM_011522525.1:c.3863A>G XP_011520827.1:p.His1288Arg
XM_011522526.1:c.3863A>G XP_011520828.1:p.His1288Arg
XM_011522527.1:c.3863A>G XP_011520829.1:p.His1288Arg
XM_011522528.1:c.3839A>G XP_011520830.1:p.His1280Arg
XM_011522529.1:c.3839A>G XP_011520831.1:p.His1280Arg
XM_011522530.1:c.3809A>G XP_011520832.1:p.His1270Arg
XM_011522531.1:c.3791A>G XP_011520833.1:p.His1264Arg
XM_011522532.1:c.3737A>G XP_011520834.1:p.His1246Arg
XM_011522533.1:c.3656A>G XP_011520835.1:p.His1219Arg
XM_011522534.1:c.3599A>G XP_011520836.1:p.His1200Arg
XM_011522535.1:c.1685A>G XP_011520837.1:p.His562Arg
XM_011522536.1:c.3863A>G XP_011520838.1:p.His1288Arg
XM_011522537.1:c.863A>G XP_011520839.1:p.His288Arg
XR_932867.1:n.3878A>G
XR_932868.1:n.3878A>G
XR_932869.1:n.3878A>G
XR_932870.1:n.3878A>G
XM_005255370.3:c.740A>G XP_005255427.1:p.His247Arg
XM_011522528.3:c.3839A>G XP_011520830.1:p.His1280Arg
XM_011522529.2:c.3839A>G XP_011520831.1:p.His1280Arg
XM_011522537.2:c.863A>G XP_011520839.1:p.His288Arg
XM_024450298.1:c.3905A>G XP_024306066.1:p.His1302Arg
XM_024450299.1:c.3833A>G XP_024306067.1:p.His1278Arg
XM_024450300.1:c.3695A>G XP_024306068.1:p.His1232Arg
XM_024450301.1:c.1781A>G XP_024306069.1:p.His594Arg
NM_000296.4:c.3785A>G NP_000287.4:p.His1262Arg
NM_001009944.3:c.3785A>G MANE Select NP_001009944.3:p.His1262Arg
Search 100 bp 5'
Search 100 bp 3'