Canonical Allele Identifier: CA16620109
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419272
ClinVar RCV Id: RCV000479218
dbSNP Id: rs1064793762

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2108254G>A , CM000678.2:g.2108254G>A GRCh38
NC_000016.9:g.2158255G>A , CM000678.1:g.2158255G>A GRCh37
NC_000016.8:g.2098256G>A NCBI36
NG_008617.1:g.32645C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.6913C>T MANE Select ENSP00000262304.4:p.Gln2305Ter
ENST00000262304.8:c.6913C>T ENSP00000262304.4:p.Gln2305Ter
ENST00000415938.7:n.311-1306C>T
ENST00000423118.5:c.6913C>T ENSP00000399501.1:p.Gln2305Ter
ENST00000473780.2:n.295C>T
ENST00000483024.1:c.234-1306C>T
ENST00000483731.5:n.791-1306C>T
ENST00000487932.5:c.1600C>T ENSP00000457132.1:p.Gln534Ter
ENST00000488185.2:c.577C>T
ENST00000565639.6:n.774-1306C>T
ENST00000568591.5:c.2227-1306C>T ENSP00000457162.1:n.2227-1306C>T
ENST00000569983.5:n.422-1306C>T
NM_000296.3:c.6913C>T NP_000287.3:p.Gln2305Ter
NM_001009944.2:c.6913C>T NP_001009944.2:p.Gln2305Ter
XM_005255370.2:c.3868C>T XP_005255427.1:p.Gln1290Ter
XM_011522525.1:c.6991C>T XP_011520827.1:p.Gln2331Ter
XM_011522526.1:c.6991C>T XP_011520828.1:p.Gln2331Ter
XM_011522527.1:c.6991C>T XP_011520829.1:p.Gln2331Ter
XM_011522528.1:c.6967C>T XP_011520830.1:p.Gln2323Ter
XM_011522529.1:c.6967C>T XP_011520831.1:p.Gln2323Ter
XM_011522530.1:c.6937C>T XP_011520832.1:p.Gln2313Ter
XM_011522531.1:c.6919C>T XP_011520833.1:p.Gln2307Ter
XM_011522532.1:c.6865C>T XP_011520834.1:p.Gln2289Ter
XM_011522533.1:c.6784C>T XP_011520835.1:p.Gln2262Ter
XM_011522534.1:c.6727C>T XP_011520836.1:p.Gln2243Ter
XM_011522535.1:c.4813C>T XP_011520837.1:p.Gln1605Ter
XM_011522536.1:c.6991C>T XP_011520838.1:p.Gln2331Ter
XM_011522537.1:c.3991C>T XP_011520839.1:p.Gln1331Ter
XR_932867.1:n.7006C>T
XR_932868.1:n.7006C>T
XR_932869.1:n.7006C>T
XR_932870.1:n.7006C>T
XM_005255370.3:c.3868C>T XP_005255427.1:p.Gln1290Ter
XM_011522528.3:c.6967C>T XP_011520830.1:p.Gln2323Ter
XM_011522529.2:c.6967C>T XP_011520831.1:p.Gln2323Ter
XM_011522537.2:c.3991C>T XP_011520839.1:p.Gln1331Ter
XM_024450298.1:c.7033C>T XP_024306066.1:p.Gln2345Ter
XM_024450299.1:c.6961C>T XP_024306067.1:p.Gln2321Ter
XM_024450300.1:c.6823C>T XP_024306068.1:p.Gln2275Ter
XM_024450301.1:c.4909C>T XP_024306069.1:p.Gln1637Ter
NM_000296.4:c.6913C>T NP_000287.4:p.Gln2305Ter
NM_001009944.3:c.6913C>T MANE Select NP_001009944.3:p.Gln2305Ter