Canonical Allele Identifier: CA493044985
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2144136G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094135G>A , CM000678.2:g.2094135G>A GRCh38
NC_000016.9:g.2144136G>A , CM000678.1:g.2144136G>A GRCh37
NC_000016.8:g.2084137G>A NCBI36
NG_008617.1:g.49086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10575C>T (PKD1) MANE Select ENSP00000262304.4:p.Gly3525=
ENST00000262304.8:c.10575C>T (PKD1) ENSP00000262304.4:p.Gly3525=
ENST00000423118.5:c.10572C>T (PKD1) ENSP00000399501.1:p.Gly3524=
ENST00000472659.1:n.12C>T (PKD1)
ENST00000487932.5:c.5137C>T (PKD1) ENSP00000457132.1:n.5137C>T
NM_000296.3:c.10572C>T (PKD1) NP_000287.3:p.Gly3524=
NM_001009944.2:c.10575C>T (PKD1) NP_001009944.2:p.Gly3525=
XM_005255370.2:c.7530C>T (PKD1) XP_005255427.1:p.Gly2510=
XM_011522525.1:c.10653C>T (PKD1) XP_011520827.1:p.Gly3551=
XM_011522526.1:c.10650C>T (PKD1) XP_011520828.1:p.Gly3550=
XM_011522527.1:c.10635C>T (PKD1) XP_011520829.1:p.Gly3545=
XM_011522528.1:c.10629C>T (PKD1) XP_011520830.1:p.Gly3543=
XM_011522529.1:c.10626C>T (PKD1) XP_011520831.1:p.Gly3542=
XM_011522530.1:c.10599C>T (PKD1) XP_011520832.1:p.Gly3533=
XM_011522531.1:c.10581C>T (PKD1) XP_011520833.1:p.Gly3527=
XM_011522532.1:c.10527C>T (PKD1) XP_011520834.1:p.Gly3509=
XM_011522533.1:c.10446C>T (PKD1) XP_011520835.1:p.Gly3482=
XM_011522534.1:c.10389C>T (PKD1) XP_011520836.1:p.Gly3463=
XM_011522535.1:c.8475C>T (PKD1) XP_011520837.1:p.Gly2825=
XM_011522537.1:c.7653C>T (PKD1) XP_011520839.1:p.Gly2551=
XR_932867.1:n.10668C>T (PKD1)
XR_932868.1:n.10668C>T (PKD1)
XR_932869.1:n.10668C>T (PKD1)
XR_932870.1:n.10668C>T (PKD1)
XR_933000.1:n.214-543G>A (PKD1-AS1)
XR_933001.1:n.304-586G>A (PKD1-AS1)
XR_933002.1:n.213-543G>A (PKD1-AS1)
XR_933003.1:n.213-586G>A (PKD1-AS1)
NR_135175.1:n.304-586G>A (PKD1-AS1)
XM_005255370.3:c.7530C>T (PKD1) XP_005255427.1:p.Gly2510=
XM_011522528.3:c.10629C>T (PKD1) XP_011520830.1:p.Gly3543=
XM_011522529.2:c.10626C>T (PKD1) XP_011520831.1:p.Gly3542=
XM_011522537.2:c.7653C>T (PKD1) XP_011520839.1:p.Gly2551=
XM_024450298.1:c.10695C>T (PKD1) XP_024306066.1:p.Gly3565=
XM_024450299.1:c.10623C>T (PKD1) XP_024306067.1:p.Gly3541=
XM_024450300.1:c.10485C>T (PKD1) XP_024306068.1:p.Gly3495=
XM_024450301.1:c.8571C>T (PKD1) XP_024306069.1:p.Gly2857=
NM_000296.4:c.10572C>T (PKD1) NP_000287.4:p.Gly3524=
NM_001009944.3:c.10575C>T (PKD1) MANE Select NP_001009944.3:p.Gly3525=