Canonical Allele Identifier: CA492962505
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2142590A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092589A>T , CM000678.2:g.2092589A>T GRCh38
NC_000016.9:g.2142590A>T , CM000678.1:g.2142590A>T GRCh37
NC_000016.8:g.2082591A>T NCBI36
NG_008617.1:g.50632T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11160T>A (PKD1) MANE Select ENSP00000262304.4:p.Ser3720=
ENST00000262304.8:c.11160T>A (PKD1) ENSP00000262304.4:p.Ser3720=
ENST00000423118.5:c.11157T>A (PKD1) ENSP00000399501.1:p.Ser3719=
ENST00000485120.1:n.9T>A (PKD1)
ENST00000487932.5:c.5722T>A (PKD1) ENSP00000457132.1:n.5722T>A
ENST00000562425.1:c.273T>A (PKD1)
ENST00000567355.1:n.323T>A (PKD1)
NM_000296.3:c.11157T>A (PKD1) NP_000287.3:p.Ser3719=
NM_001009944.2:c.11160T>A (PKD1) NP_001009944.2:p.Ser3720=
XM_005255370.2:c.8115T>A (PKD1) XP_005255427.1:p.Ser2705=
XM_011522525.1:c.11238T>A (PKD1) XP_011520827.1:p.Ser3746=
XM_011522526.1:c.11235T>A (PKD1) XP_011520828.1:p.Ser3745=
XM_011522527.1:c.11220T>A (PKD1) XP_011520829.1:p.Ser3740=
XM_011522528.1:c.11214T>A (PKD1) XP_011520830.1:p.Ser3738=
XM_011522529.1:c.11211T>A (PKD1) XP_011520831.1:p.Ser3737=
XM_011522530.1:c.11184T>A (PKD1) XP_011520832.1:p.Ser3728=
XM_011522531.1:c.11166T>A (PKD1) XP_011520833.1:p.Ser3722=
XM_011522532.1:c.11112T>A (PKD1) XP_011520834.1:p.Ser3704=
XM_011522533.1:c.11031T>A (PKD1) XP_011520835.1:p.Ser3677=
XM_011522534.1:c.10974T>A (PKD1) XP_011520836.1:p.Ser3658=
XM_011522535.1:c.9060T>A (PKD1) XP_011520837.1:p.Ser3020=
XM_011522537.1:c.8238T>A (PKD1) XP_011520839.1:p.Ser2746=
XR_932867.1:n.11253T>A (PKD1)
XR_932868.1:n.11110-401T>A (PKD1)
XR_932869.1:n.11110-401T>A (PKD1)
XR_932870.1:n.11113T>A (PKD1)
XR_933000.1:n.90-300A>T (PKD1-AS1)
XR_933001.1:n.180-300A>T (PKD1-AS1)
XR_933002.1:n.89-300A>T (PKD1-AS1)
XR_933003.1:n.89-300A>T (PKD1-AS1)
NR_135175.1:n.180-300A>T (PKD1-AS1)
XM_005255370.3:c.8115T>A (PKD1) XP_005255427.1:p.Ser2705=
XM_011522528.3:c.11214T>A (PKD1) XP_011520830.1:p.Ser3738=
XM_011522529.2:c.11211T>A (PKD1) XP_011520831.1:p.Ser3737=
XM_011522537.2:c.8238T>A (PKD1) XP_011520839.1:p.Ser2746=
XM_024450298.1:c.11280T>A (PKD1) XP_024306066.1:p.Ser3760=
XM_024450299.1:c.11208T>A (PKD1) XP_024306067.1:p.Ser3736=
XM_024450300.1:c.11070T>A (PKD1) XP_024306068.1:p.Ser3690=
XM_024450301.1:c.9156T>A (PKD1) XP_024306069.1:p.Ser3052=
NM_000296.4:c.11157T>A (PKD1) NP_000287.4:p.Ser3719=
NM_001009944.3:c.11160T>A (PKD1) MANE Select NP_001009944.3:p.Ser3720=