Canonical Allele Identifier: CA16043509
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374102
dbSNP Id: rs1057518899

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2111647G>A , CM000678.2:g.2111647G>A GRCh38
NC_000016.9:g.2161648G>A , CM000678.1:g.2161648G>A GRCh37
NC_000016.8:g.2101649G>A NCBI36
NG_008617.1:g.29252C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.3520C>T MANE Select ENSP00000262304.4:p.Gln1174Ter
ENST00000262304.8:c.3520C>T ENSP00000262304.4:p.Gln1174Ter
ENST00000415938.7:n.310+693C>T
ENST00000423118.5:c.3520C>T ENSP00000399501.1:p.Gln1174Ter
ENST00000468674.5:n.430+693C>T
ENST00000469241.2:n.470C>T
ENST00000483024.1:c.233+169C>T
ENST00000483731.5:n.790+693C>T
ENST00000488185.2:c.473-3289C>T
ENST00000565639.6:n.773+693C>T
ENST00000568591.5:c.2226+693C>T ENSP00000457162.1:n.2226+693C>T
ENST00000569983.5:n.421+693C>T
NM_000296.3:c.3520C>T NP_000287.3:p.Gln1174Ter
NM_001009944.2:c.3520C>T NP_001009944.2:p.Gln1174Ter
XM_005255370.2:c.475C>T XP_005255427.1:p.Gln159Ter
XM_011522525.1:c.3598C>T XP_011520827.1:p.Gln1200Ter
XM_011522526.1:c.3598C>T XP_011520828.1:p.Gln1200Ter
XM_011522527.1:c.3598C>T XP_011520829.1:p.Gln1200Ter
XM_011522528.1:c.3574C>T XP_011520830.1:p.Gln1192Ter
XM_011522529.1:c.3574C>T XP_011520831.1:p.Gln1192Ter
XM_011522530.1:c.3544C>T XP_011520832.1:p.Gln1182Ter
XM_011522531.1:c.3526C>T XP_011520833.1:p.Gln1176Ter
XM_011522532.1:c.3472C>T XP_011520834.1:p.Gln1158Ter
XM_011522533.1:c.3391C>T XP_011520835.1:p.Gln1131Ter
XM_011522534.1:c.3334C>T XP_011520836.1:p.Gln1112Ter
XM_011522535.1:c.1420C>T XP_011520837.1:p.Gln474Ter
XM_011522536.1:c.3598C>T XP_011520838.1:p.Gln1200Ter
XM_011522537.1:c.598C>T XP_011520839.1:p.Gln200Ter
XR_932867.1:n.3613C>T
XR_932868.1:n.3613C>T
XR_932869.1:n.3613C>T
XR_932870.1:n.3613C>T
XM_005255370.3:c.475C>T XP_005255427.1:p.Gln159Ter
XM_011522528.3:c.3574C>T XP_011520830.1:p.Gln1192Ter
XM_011522529.2:c.3574C>T XP_011520831.1:p.Gln1192Ter
XM_011522537.2:c.598C>T XP_011520839.1:p.Gln200Ter
XM_024450298.1:c.3640C>T XP_024306066.1:p.Gln1214Ter
XM_024450299.1:c.3568C>T XP_024306067.1:p.Gln1190Ter
XM_024450300.1:c.3430C>T XP_024306068.1:p.Gln1144Ter
XM_024450301.1:c.1516C>T XP_024306069.1:p.Gln506Ter
NM_000296.4:c.3520C>T NP_000287.4:p.Gln1174Ter
NM_001009944.3:c.3520C>T MANE Select NP_001009944.3:p.Gln1174Ter