Canonical Allele Identifier: CA7829015
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091453G>A , CM000678.2:g.2091453G>A GRCh38
NC_000016.9:g.2141454G>A , CM000678.1:g.2141454G>A GRCh37
NC_000016.8:g.2081455G>A NCBI36
NG_008617.1:g.51768C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11682C>T (PKD1) MANE Select ENSP00000262304.4:p.Ser3894=
ENST00000262304.8:c.11682C>T (PKD1) ENSP00000262304.4:p.Ser3894=
ENST00000423118.5:c.11679C>T (PKD1) ENSP00000399501.1:p.Ser3893=
ENST00000485120.1:n.671C>T (PKD1)
ENST00000487932.5:c.6244C>T (PKD1) ENSP00000457132.1:n.6244C>T
ENST00000561668.5:c.343C>T (PKD1)
ENST00000564313.1:n.234-279C>T (PKD1)
NM_000296.3:c.11679C>T (PKD1) NP_000287.3:p.Ser3893=
NM_001009944.2:c.11682C>T (PKD1) NP_001009944.2:p.Ser3894=
XM_005255370.2:c.8637C>T (PKD1) XP_005255427.1:p.Ser2879=
XM_011522525.1:c.11760C>T (PKD1) XP_011520827.1:p.Ser3920=
XM_011522526.1:c.11757C>T (PKD1) XP_011520828.1:p.Ser3919=
XM_011522527.1:c.11742C>T (PKD1) XP_011520829.1:p.Ser3914=
XM_011522528.1:c.11736C>T (PKD1) XP_011520830.1:p.Ser3912=
XM_011522529.1:c.11733C>T (PKD1) XP_011520831.1:p.Ser3911=
XM_011522530.1:c.11706C>T (PKD1) XP_011520832.1:p.Ser3902=
XM_011522531.1:c.11688C>T (PKD1) XP_011520833.1:p.Ser3896=
XM_011522532.1:c.11634C>T (PKD1) XP_011520834.1:p.Ser3878=
XM_011522533.1:c.11553C>T (PKD1) XP_011520835.1:p.Ser3851=
XM_011522534.1:c.11496C>T (PKD1) XP_011520836.1:p.Ser3832=
XM_011522535.1:c.9582C>T (PKD1) XP_011520837.1:p.Ser3194=
XM_011522537.1:c.8760C>T (PKD1) XP_011520839.1:p.Ser2920=
XR_932867.1:n.11631-279C>T (PKD1)
XR_932869.1:n.11378-279C>T (PKD1)
XR_933001.1:n.18G>A (PKD1-AS1)
NR_135175.1:n.18G>A (PKD1-AS1)
XM_005255370.3:c.8637C>T (PKD1) XP_005255427.1:p.Ser2879=
XM_011522528.3:c.11736C>T (PKD1) XP_011520830.1:p.Ser3912=
XM_011522529.2:c.11733C>T (PKD1) XP_011520831.1:p.Ser3911=
XM_011522537.2:c.8760C>T (PKD1) XP_011520839.1:p.Ser2920=
XM_024450298.1:c.11802C>T (PKD1) XP_024306066.1:p.Ser3934=
XM_024450299.1:c.11730C>T (PKD1) XP_024306067.1:p.Ser3910=
XM_024450300.1:c.11592C>T (PKD1) XP_024306068.1:p.Ser3864=
XM_024450301.1:c.9678C>T (PKD1) XP_024306069.1:p.Ser3226=
NM_000296.4:c.11679C>T (PKD1) NP_000287.4:p.Ser3893=
NM_001009944.3:c.11682C>T (PKD1) MANE Select NP_001009944.3:p.Ser3894=