Canonical Allele Identifier: CA7829019
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091483G>A , CM000678.2:g.2091483G>A GRCh38
NC_000016.9:g.2141484G>A , CM000678.1:g.2141484G>A GRCh37
NC_000016.8:g.2081485G>A NCBI36
NG_008617.1:g.51738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11652C>T (PKD1) MANE Select ENSP00000262304.4:p.Ser3884=
ENST00000262304.8:c.11652C>T (PKD1) ENSP00000262304.4:p.Ser3884=
ENST00000423118.5:c.11649C>T (PKD1) ENSP00000399501.1:p.Ser3883=
ENST00000485120.1:n.641C>T (PKD1)
ENST00000487932.5:c.6214C>T (PKD1) ENSP00000457132.1:n.6214C>T
ENST00000561668.5:c.313C>T (PKD1)
ENST00000564313.1:n.233+298C>T (PKD1)
NM_000296.3:c.11649C>T (PKD1) NP_000287.3:p.Ser3883=
NM_001009944.2:c.11652C>T (PKD1) NP_001009944.2:p.Ser3884=
XM_005255370.2:c.8607C>T (PKD1) XP_005255427.1:p.Ser2869=
XM_011522525.1:c.11730C>T (PKD1) XP_011520827.1:p.Ser3910=
XM_011522526.1:c.11727C>T (PKD1) XP_011520828.1:p.Ser3909=
XM_011522527.1:c.11712C>T (PKD1) XP_011520829.1:p.Ser3904=
XM_011522528.1:c.11706C>T (PKD1) XP_011520830.1:p.Ser3902=
XM_011522529.1:c.11703C>T (PKD1) XP_011520831.1:p.Ser3901=
XM_011522530.1:c.11676C>T (PKD1) XP_011520832.1:p.Ser3892=
XM_011522531.1:c.11658C>T (PKD1) XP_011520833.1:p.Ser3886=
XM_011522532.1:c.11604C>T (PKD1) XP_011520834.1:p.Ser3868=
XM_011522533.1:c.11523C>T (PKD1) XP_011520835.1:p.Ser3841=
XM_011522534.1:c.11466C>T (PKD1) XP_011520836.1:p.Ser3822=
XM_011522535.1:c.9552C>T (PKD1) XP_011520837.1:p.Ser3184=
XM_011522537.1:c.8730C>T (PKD1) XP_011520839.1:p.Ser2910=
XR_932867.1:n.11630+298C>T (PKD1)
XR_932869.1:n.11377+298C>T (PKD1)
XR_933001.1:n.48G>A (PKD1-AS1)
NR_135175.1:n.48G>A (PKD1-AS1)
XM_005255370.3:c.8607C>T (PKD1) XP_005255427.1:p.Ser2869=
XM_011522528.3:c.11706C>T (PKD1) XP_011520830.1:p.Ser3902=
XM_011522529.2:c.11703C>T (PKD1) XP_011520831.1:p.Ser3901=
XM_011522537.2:c.8730C>T (PKD1) XP_011520839.1:p.Ser2910=
XM_024450298.1:c.11772C>T (PKD1) XP_024306066.1:p.Ser3924=
XM_024450299.1:c.11700C>T (PKD1) XP_024306067.1:p.Ser3900=
XM_024450300.1:c.11562C>T (PKD1) XP_024306068.1:p.Ser3854=
XM_024450301.1:c.9648C>T (PKD1) XP_024306069.1:p.Ser3216=
NM_000296.4:c.11649C>T (PKD1) NP_000287.4:p.Ser3883=
NM_001009944.3:c.11652C>T (PKD1) MANE Select NP_001009944.3:p.Ser3884=