Canonical Allele Identifier: CA492962470
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2142530G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092529G>T , CM000678.2:g.2092529G>T GRCh38
NC_000016.9:g.2142530G>T , CM000678.1:g.2142530G>T GRCh37
NC_000016.8:g.2082531G>T NCBI36
NG_008617.1:g.50692C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11220C>A (PKD1) MANE Select ENSP00000262304.4:p.Ser3740=
ENST00000262304.8:c.11220C>A (PKD1) ENSP00000262304.4:p.Ser3740=
ENST00000423118.5:c.11217C>A (PKD1) ENSP00000399501.1:p.Ser3739=
ENST00000485120.1:n.69C>A (PKD1)
ENST00000487932.5:c.5782C>A (PKD1) ENSP00000457132.1:n.5782C>A
ENST00000562425.1:c.333C>A (PKD1)
ENST00000567355.1:n.383C>A (PKD1)
NM_000296.3:c.11217C>A (PKD1) NP_000287.3:p.Ser3739=
NM_001009944.2:c.11220C>A (PKD1) NP_001009944.2:p.Ser3740=
XM_005255370.2:c.8175C>A (PKD1) XP_005255427.1:p.Ser2725=
XM_011522525.1:c.11298C>A (PKD1) XP_011520827.1:p.Ser3766=
XM_011522526.1:c.11295C>A (PKD1) XP_011520828.1:p.Ser3765=
XM_011522527.1:c.11280C>A (PKD1) XP_011520829.1:p.Ser3760=
XM_011522528.1:c.11274C>A (PKD1) XP_011520830.1:p.Ser3758=
XM_011522529.1:c.11271C>A (PKD1) XP_011520831.1:p.Ser3757=
XM_011522530.1:c.11244C>A (PKD1) XP_011520832.1:p.Ser3748=
XM_011522531.1:c.11226C>A (PKD1) XP_011520833.1:p.Ser3742=
XM_011522532.1:c.11172C>A (PKD1) XP_011520834.1:p.Ser3724=
XM_011522533.1:c.11091C>A (PKD1) XP_011520835.1:p.Ser3697=
XM_011522534.1:c.11034C>A (PKD1) XP_011520836.1:p.Ser3678=
XM_011522535.1:c.9120C>A (PKD1) XP_011520837.1:p.Ser3040=
XM_011522537.1:c.8298C>A (PKD1) XP_011520839.1:p.Ser2766=
XR_932867.1:n.11313C>A (PKD1)
XR_932868.1:n.11110-341C>A (PKD1)
XR_932869.1:n.11110-341C>A (PKD1)
XR_932870.1:n.11173C>A (PKD1)
XR_933000.1:n.90-360G>T (PKD1-AS1)
XR_933001.1:n.180-360G>T (PKD1-AS1)
XR_933002.1:n.89-360G>T (PKD1-AS1)
XR_933003.1:n.89-360G>T (PKD1-AS1)
NR_135175.1:n.180-360G>T (PKD1-AS1)
XM_005255370.3:c.8175C>A (PKD1) XP_005255427.1:p.Ser2725=
XM_011522528.3:c.11274C>A (PKD1) XP_011520830.1:p.Ser3758=
XM_011522529.2:c.11271C>A (PKD1) XP_011520831.1:p.Ser3757=
XM_011522537.2:c.8298C>A (PKD1) XP_011520839.1:p.Ser2766=
XM_024450298.1:c.11340C>A (PKD1) XP_024306066.1:p.Ser3780=
XM_024450299.1:c.11268C>A (PKD1) XP_024306067.1:p.Ser3756=
XM_024450300.1:c.11130C>A (PKD1) XP_024306068.1:p.Ser3710=
XM_024450301.1:c.9216C>A (PKD1) XP_024306069.1:p.Ser3072=
NM_000296.4:c.11217C>A (PKD1) NP_000287.4:p.Ser3739=
NM_001009944.3:c.11220C>A (PKD1) MANE Select NP_001009944.3:p.Ser3740=