Canonical Allele Identifier: CA493044960
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2144094T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094093T>A , CM000678.2:g.2094093T>A GRCh38
NC_000016.9:g.2144094T>A , CM000678.1:g.2144094T>A GRCh37
NC_000016.8:g.2084095T>A NCBI36
NG_008617.1:g.49128A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10617A>T (PKD1) MANE Select ENSP00000262304.4:p.Thr3539=
ENST00000262304.8:c.10617A>T (PKD1) ENSP00000262304.4:p.Thr3539=
ENST00000423118.5:c.10614A>T (PKD1) ENSP00000399501.1:p.Thr3538=
ENST00000472659.1:n.54A>T (PKD1)
ENST00000487932.5:c.5179A>T (PKD1) ENSP00000457132.1:n.5179A>T
NM_000296.3:c.10614A>T (PKD1) NP_000287.3:p.Thr3538=
NM_001009944.2:c.10617A>T (PKD1) NP_001009944.2:p.Thr3539=
XM_005255370.2:c.7572A>T (PKD1) XP_005255427.1:p.Thr2524=
XM_011522525.1:c.10695A>T (PKD1) XP_011520827.1:p.Thr3565=
XM_011522526.1:c.10692A>T (PKD1) XP_011520828.1:p.Thr3564=
XM_011522527.1:c.10677A>T (PKD1) XP_011520829.1:p.Thr3559=
XM_011522528.1:c.10671A>T (PKD1) XP_011520830.1:p.Thr3557=
XM_011522529.1:c.10668A>T (PKD1) XP_011520831.1:p.Thr3556=
XM_011522530.1:c.10641A>T (PKD1) XP_011520832.1:p.Thr3547=
XM_011522531.1:c.10623A>T (PKD1) XP_011520833.1:p.Thr3541=
XM_011522532.1:c.10569A>T (PKD1) XP_011520834.1:p.Thr3523=
XM_011522533.1:c.10488A>T (PKD1) XP_011520835.1:p.Thr3496=
XM_011522534.1:c.10431A>T (PKD1) XP_011520836.1:p.Thr3477=
XM_011522535.1:c.8517A>T (PKD1) XP_011520837.1:p.Thr2839=
XM_011522537.1:c.7695A>T (PKD1) XP_011520839.1:p.Thr2565=
XR_932867.1:n.10710A>T (PKD1)
XR_932868.1:n.10710A>T (PKD1)
XR_932869.1:n.10710A>T (PKD1)
XR_932870.1:n.10710A>T (PKD1)
XR_933000.1:n.214-585T>A (PKD1-AS1)
XR_933001.1:n.304-628T>A (PKD1-AS1)
XR_933002.1:n.213-585T>A (PKD1-AS1)
XR_933003.1:n.213-628T>A (PKD1-AS1)
NR_135175.1:n.304-628T>A (PKD1-AS1)
XM_005255370.3:c.7572A>T (PKD1) XP_005255427.1:p.Thr2524=
XM_011522528.3:c.10671A>T (PKD1) XP_011520830.1:p.Thr3557=
XM_011522529.2:c.10668A>T (PKD1) XP_011520831.1:p.Thr3556=
XM_011522537.2:c.7695A>T (PKD1) XP_011520839.1:p.Thr2565=
XM_024450298.1:c.10737A>T (PKD1) XP_024306066.1:p.Thr3579=
XM_024450299.1:c.10665A>T (PKD1) XP_024306067.1:p.Thr3555=
XM_024450300.1:c.10527A>T (PKD1) XP_024306068.1:p.Thr3509=
XM_024450301.1:c.8613A>T (PKD1) XP_024306069.1:p.Thr2871=
NM_000296.4:c.10614A>T (PKD1) NP_000287.4:p.Thr3538=
NM_001009944.3:c.10617A>T (PKD1) MANE Select NP_001009944.3:p.Thr3539=