Canonical Allele Identifier: CA2202026390
Community Standard Title: NM_001009944.3(PKD1):c.10535C= (p.Ala3512=)
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094175G= , CM000678.2:g.2094175G= GRCh38
NC_000016.9:g.2144176G= , CM000678.1:g.2144176G= GRCh37
NC_000016.8:g.2084177G= NCBI36
NG_008617.1:g.49046C=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.10535C= (PKD1) MANE Select NP_001009944.3:p.Ala3512=
ENST00000262304.9:c.10535C= (PKD1) MANE Select ENSP00000262304.4:p.Ala3512=
NM_000296.3:c.10532C= (PKD1) NP_000287.3:p.Ala3511=
NM_000296.4:c.10532C= (PKD1) NP_000287.4:p.Ala3511=
NM_001009944.2:c.10535C= (PKD1) NP_001009944.2:p.Ala3512=
NR_135175.1:n.304-546G= (PKD1-AS1)
ENST00000262304.8:c.10535C= (PKD1) ENSP00000262304.4:p.Ala3512=
ENST00000423118.5:c.10532C= (PKD1) ENSP00000399501.1:p.Ala3511=
ENST00000487932.5:c.5097C= (PKD1) ENSP00000457132.1:n.5097C=
XM_005255370.2:c.7490C= (PKD1) XP_005255427.1:p.Ala2497=
XM_005255370.3:c.7490C= (PKD1) XP_005255427.1:p.Ala2497=
XM_011522525.1:c.10613C= (PKD1) XP_011520827.1:p.Ala3538=
XM_011522526.1:c.10610C= (PKD1) XP_011520828.1:p.Ala3537=
XM_011522527.1:c.10595C= (PKD1) XP_011520829.1:p.Ala3532=
XM_011522528.1:c.10589C= (PKD1) XP_011520830.1:p.Ala3530=
XM_011522528.3:c.10589C= (PKD1) XP_011520830.1:p.Ala3530=
XM_011522529.1:c.10586C= (PKD1) XP_011520831.1:p.Ala3529=
XM_011522529.2:c.10586C= (PKD1) XP_011520831.1:p.Ala3529=
XM_011522530.1:c.10559C= (PKD1) XP_011520832.1:p.Ala3520=
XM_011522531.1:c.10541C= (PKD1) XP_011520833.1:p.Ala3514=
XM_011522532.1:c.10487C= (PKD1) XP_011520834.1:p.Ala3496=
XM_011522533.1:c.10406C= (PKD1) XP_011520835.1:p.Ala3469=
XM_011522534.1:c.10349C= (PKD1) XP_011520836.1:p.Ala3450=
XM_011522535.1:c.8435C= (PKD1) XP_011520837.1:p.Ala2812=
XM_011522537.1:c.7613C= (PKD1) XP_011520839.1:p.Ala2538=
XM_011522537.2:c.7613C= (PKD1) XP_011520839.1:p.Ala2538=
XM_024450298.1:c.10655C= (PKD1) XP_024306066.1:p.Ala3552=
XM_024450299.1:c.10583C= (PKD1) XP_024306067.1:p.Ala3528=
XM_024450300.1:c.10445C= (PKD1) XP_024306068.1:p.Ala3482=
XM_024450301.1:c.8531C= (PKD1) XP_024306069.1:p.Ala2844=
XR_932867.1:n.10628C= (PKD1)
XR_932868.1:n.10628C= (PKD1)
XR_932869.1:n.10628C= (PKD1)
XR_932870.1:n.10628C= (PKD1)
XR_933000.1:n.214-503G= (PKD1-AS1)
XR_933001.1:n.304-546G= (PKD1-AS1)
XR_933002.1:n.213-503G= (PKD1-AS1)
XR_933003.1:n.213-546G= (PKD1-AS1)