Canonical Allele Identifier: CA119379
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8205
dbSNP Id: rs199476099

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2118021C>A , CM000678.2:g.2118021C>A GRCh38
NC_000016.9:g.2168022C>A , CM000678.1:g.2168022C>A GRCh37
NC_000016.8:g.2108023C>A NCBI36
NG_008617.1:g.22878G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.971G>T MANE Select ENSP00000262304.4:p.Arg324Leu
ENST00000262304.8:c.971G>T ENSP00000262304.4:p.Arg324Leu
ENST00000423118.5:c.971G>T ENSP00000399501.1:p.Arg324Leu
ENST00000488185.2:n.58G>T
ENST00000570150.1:n.104G>T
NM_000296.3:c.971G>T NP_000287.3:p.Arg324Leu
NM_001009944.2:c.971G>T NP_001009944.2:p.Arg324Leu
XM_011522525.1:c.1025G>T XP_011520827.1:p.Arg342Leu
XM_011522526.1:c.1025G>T XP_011520828.1:p.Arg342Leu
XM_011522527.1:c.1025G>T XP_011520829.1:p.Arg342Leu
XM_011522528.1:c.1025G>T XP_011520830.1:p.Arg342Leu
XM_011522529.1:c.1025G>T XP_011520831.1:p.Arg342Leu
XM_011522530.1:c.971G>T XP_011520832.1:p.Arg324Leu
XM_011522531.1:c.953G>T XP_011520833.1:p.Arg318Leu
XM_011522532.1:c.899G>T XP_011520834.1:p.Arg300Leu
XM_011522533.1:c.818G>T XP_011520835.1:p.Arg273Leu
XM_011522534.1:c.761G>T XP_011520836.1:p.Arg254Leu
XM_011522536.1:c.1025G>T XP_011520838.1:p.Arg342Leu
XR_932867.1:n.1040G>T
XR_932868.1:n.1040G>T
XR_932869.1:n.1040G>T
XR_932870.1:n.1040G>T
XM_011522528.3:c.1025G>T XP_011520830.1:p.Arg342Leu
XM_011522529.2:c.1025G>T XP_011520831.1:p.Arg342Leu
XM_024450298.1:c.971G>T XP_024306066.1:p.Arg324Leu
XM_024450299.1:c.899G>T XP_024306067.1:p.Arg300Leu
XM_024450300.1:c.761G>T XP_024306068.1:p.Arg254Leu
NM_000296.4:c.971G>T NP_000287.4:p.Arg324Leu
NM_001009944.3:c.971G>T MANE Select NP_001009944.3:p.Arg324Leu