Canonical Allele Identifier: CA492962441
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2142508G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092507G>T , CM000678.2:g.2092507G>T GRCh38
NC_000016.9:g.2142508G>T , CM000678.1:g.2142508G>T GRCh37
NC_000016.8:g.2082509G>T NCBI36
NG_008617.1:g.50714C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11242C>A (PKD1) MANE Select ENSP00000262304.4:p.Arg3748=
ENST00000262304.8:c.11242C>A (PKD1) ENSP00000262304.4:p.Arg3748=
ENST00000423118.5:c.11239C>A (PKD1) ENSP00000399501.1:p.Arg3747=
ENST00000485120.1:n.91C>A (PKD1)
ENST00000487932.5:c.5804C>A (PKD1) ENSP00000457132.1:n.5804C>A
ENST00000562425.1:c.355C>A (PKD1)
ENST00000567355.1:n.405C>A (PKD1)
NM_000296.3:c.11239C>A (PKD1) NP_000287.3:p.Arg3747=
NM_001009944.2:c.11242C>A (PKD1) NP_001009944.2:p.Arg3748=
XM_005255370.2:c.8197C>A (PKD1) XP_005255427.1:p.Arg2733=
XM_011522525.1:c.11320C>A (PKD1) XP_011520827.1:p.Arg3774=
XM_011522526.1:c.11317C>A (PKD1) XP_011520828.1:p.Arg3773=
XM_011522527.1:c.11302C>A (PKD1) XP_011520829.1:p.Arg3768=
XM_011522528.1:c.11296C>A (PKD1) XP_011520830.1:p.Arg3766=
XM_011522529.1:c.11293C>A (PKD1) XP_011520831.1:p.Arg3765=
XM_011522530.1:c.11266C>A (PKD1) XP_011520832.1:p.Arg3756=
XM_011522531.1:c.11248C>A (PKD1) XP_011520833.1:p.Arg3750=
XM_011522532.1:c.11194C>A (PKD1) XP_011520834.1:p.Arg3732=
XM_011522533.1:c.11113C>A (PKD1) XP_011520835.1:p.Arg3705=
XM_011522534.1:c.11056C>A (PKD1) XP_011520836.1:p.Arg3686=
XM_011522535.1:c.9142C>A (PKD1) XP_011520837.1:p.Arg3048=
XM_011522537.1:c.8320C>A (PKD1) XP_011520839.1:p.Arg2774=
XR_932867.1:n.11335C>A (PKD1)
XR_932868.1:n.11110-319C>A (PKD1)
XR_932869.1:n.11110-319C>A (PKD1)
XR_932870.1:n.11195C>A (PKD1)
XR_933000.1:n.90-382G>T (PKD1-AS1)
XR_933001.1:n.180-382G>T (PKD1-AS1)
XR_933002.1:n.89-382G>T (PKD1-AS1)
XR_933003.1:n.89-382G>T (PKD1-AS1)
NR_135175.1:n.180-382G>T (PKD1-AS1)
XM_005255370.3:c.8197C>A (PKD1) XP_005255427.1:p.Arg2733=
XM_011522528.3:c.11296C>A (PKD1) XP_011520830.1:p.Arg3766=
XM_011522529.2:c.11293C>A (PKD1) XP_011520831.1:p.Arg3765=
XM_011522537.2:c.8320C>A (PKD1) XP_011520839.1:p.Arg2774=
XM_024450298.1:c.11362C>A (PKD1) XP_024306066.1:p.Arg3788=
XM_024450299.1:c.11290C>A (PKD1) XP_024306067.1:p.Arg3764=
XM_024450300.1:c.11152C>A (PKD1) XP_024306068.1:p.Arg3718=
XM_024450301.1:c.9238C>A (PKD1) XP_024306069.1:p.Arg3080=
NM_000296.4:c.11239C>A (PKD1) NP_000287.4:p.Arg3747=
NM_001009944.3:c.11242C>A (PKD1) MANE Select NP_001009944.3:p.Arg3748=