Canonical Allele Identifier: CA394387520
Gene: PKD1 HGNC NCBI

Linked Data

dbSNP Id: rs1290844116
gnomAD v2: 16-2164472-G-A
gnomAD v4: 16-2114471-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2114471G>A , CM000678.2:g.2114471G>A GRCh38
NC_000016.9:g.2164472G>A , CM000678.1:g.2164472G>A GRCh37
NC_000016.8:g.2104473G>A NCBI36
NG_008617.1:g.26428C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.2552C>T MANE Select ENSP00000262304.4:p.Ser851Phe
ENST00000262304.8:c.2552C>T ENSP00000262304.4:p.Ser851Phe
ENST00000423118.5:c.2552C>T ENSP00000399501.1:p.Ser851Phe
ENST00000488185.2:c.472+3018C>T
ENST00000565639.6:n.11C>T
ENST00000568591.5:c.1483C>T ENSP00000457162.1:n.1483C>T
NM_000296.3:c.2552C>T NP_000287.3:p.Ser851Phe
NM_001009944.2:c.2552C>T NP_001009944.2:p.Ser851Phe
XM_011522525.1:c.2606C>T XP_011520827.1:p.Ser869Phe
XM_011522526.1:c.2606C>T XP_011520828.1:p.Ser869Phe
XM_011522527.1:c.2606C>T XP_011520829.1:p.Ser869Phe
XM_011522528.1:c.2606C>T XP_011520830.1:p.Ser869Phe
XM_011522529.1:c.2606C>T XP_011520831.1:p.Ser869Phe
XM_011522530.1:c.2552C>T XP_011520832.1:p.Ser851Phe
XM_011522531.1:c.2534C>T XP_011520833.1:p.Ser845Phe
XM_011522532.1:c.2480C>T XP_011520834.1:p.Ser827Phe
XM_011522533.1:c.2399C>T XP_011520835.1:p.Ser800Phe
XM_011522534.1:c.2342C>T XP_011520836.1:p.Ser781Phe
XM_011522535.1:c.428C>T XP_011520837.1:p.Ser143Phe
XM_011522536.1:c.2606C>T XP_011520838.1:p.Ser869Phe
XR_932867.1:n.2621C>T
XR_932868.1:n.2621C>T
XR_932869.1:n.2621C>T
XR_932870.1:n.2621C>T
XM_005255370.3:c.-498C>T XP_005255427.1:n.-498C>T
XM_011522528.3:c.2606C>T XP_011520830.1:p.Ser869Phe
XM_011522529.2:c.2606C>T XP_011520831.1:p.Ser869Phe
XM_024450298.1:c.2552C>T XP_024306066.1:p.Ser851Phe
XM_024450299.1:c.2480C>T XP_024306067.1:p.Ser827Phe
XM_024450300.1:c.2342C>T XP_024306068.1:p.Ser781Phe
XM_024450301.1:c.428C>T XP_024306069.1:p.Ser143Phe
NM_000296.4:c.2552C>T NP_000287.4:p.Ser851Phe
NM_001009944.3:c.2552C>T MANE Select NP_001009944.3:p.Ser851Phe