Canonical Allele Identifier: CA492962501
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2142584C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092583C>T , CM000678.2:g.2092583C>T GRCh38
NC_000016.9:g.2142584C>T , CM000678.1:g.2142584C>T GRCh37
NC_000016.8:g.2082585C>T NCBI36
NG_008617.1:g.50638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11166G>A (PKD1) MANE Select ENSP00000262304.4:p.Glu3722=
ENST00000262304.8:c.11166G>A (PKD1) ENSP00000262304.4:p.Glu3722=
ENST00000423118.5:c.11163G>A (PKD1) ENSP00000399501.1:p.Glu3721=
ENST00000485120.1:n.15G>A (PKD1)
ENST00000487932.5:c.5728G>A (PKD1) ENSP00000457132.1:n.5728G>A
ENST00000562425.1:c.279G>A (PKD1)
ENST00000567355.1:n.329G>A (PKD1)
NM_000296.3:c.11163G>A (PKD1) NP_000287.3:p.Glu3721=
NM_001009944.2:c.11166G>A (PKD1) NP_001009944.2:p.Glu3722=
XM_005255370.2:c.8121G>A (PKD1) XP_005255427.1:p.Glu2707=
XM_011522525.1:c.11244G>A (PKD1) XP_011520827.1:p.Glu3748=
XM_011522526.1:c.11241G>A (PKD1) XP_011520828.1:p.Glu3747=
XM_011522527.1:c.11226G>A (PKD1) XP_011520829.1:p.Glu3742=
XM_011522528.1:c.11220G>A (PKD1) XP_011520830.1:p.Glu3740=
XM_011522529.1:c.11217G>A (PKD1) XP_011520831.1:p.Glu3739=
XM_011522530.1:c.11190G>A (PKD1) XP_011520832.1:p.Glu3730=
XM_011522531.1:c.11172G>A (PKD1) XP_011520833.1:p.Glu3724=
XM_011522532.1:c.11118G>A (PKD1) XP_011520834.1:p.Glu3706=
XM_011522533.1:c.11037G>A (PKD1) XP_011520835.1:p.Glu3679=
XM_011522534.1:c.10980G>A (PKD1) XP_011520836.1:p.Glu3660=
XM_011522535.1:c.9066G>A (PKD1) XP_011520837.1:p.Glu3022=
XM_011522537.1:c.8244G>A (PKD1) XP_011520839.1:p.Glu2748=
XR_932867.1:n.11259G>A (PKD1)
XR_932868.1:n.11110-395G>A (PKD1)
XR_932869.1:n.11110-395G>A (PKD1)
XR_932870.1:n.11119G>A (PKD1)
XR_933000.1:n.90-306C>T (PKD1-AS1)
XR_933001.1:n.180-306C>T (PKD1-AS1)
XR_933002.1:n.89-306C>T (PKD1-AS1)
XR_933003.1:n.89-306C>T (PKD1-AS1)
NR_135175.1:n.180-306C>T (PKD1-AS1)
XM_005255370.3:c.8121G>A (PKD1) XP_005255427.1:p.Glu2707=
XM_011522528.3:c.11220G>A (PKD1) XP_011520830.1:p.Glu3740=
XM_011522529.2:c.11217G>A (PKD1) XP_011520831.1:p.Glu3739=
XM_011522537.2:c.8244G>A (PKD1) XP_011520839.1:p.Glu2748=
XM_024450298.1:c.11286G>A (PKD1) XP_024306066.1:p.Glu3762=
XM_024450299.1:c.11214G>A (PKD1) XP_024306067.1:p.Glu3738=
XM_024450300.1:c.11076G>A (PKD1) XP_024306068.1:p.Glu3692=
XM_024450301.1:c.9162G>A (PKD1) XP_024306069.1:p.Glu3054=
NM_000296.4:c.11163G>A (PKD1) NP_000287.4:p.Glu3721=
NM_001009944.3:c.11166G>A (PKD1) MANE Select NP_001009944.3:p.Glu3722=