Canonical Allele Identifier: CA394341269

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2094100-G-T
• MyVariant Identifiers: chr16:g.2144101G>T (hg19) ; chr16:g.2094100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094100G>T , CM000678.2:g.2094100G>T	GRCh38
NC_000016.9:g.2144101G>T , CM000678.1:g.2144101G>T	GRCh37
NC_000016.8:g.2084102G>T	NCBI36
NG_008617.1:g.49121C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10610C>A (PKD1) MANE Select	ENSP00000262304.4:p.Ser3537Tyr
ENST00000262304.8:c.10610C>A (PKD1)	ENSP00000262304.4:p.Ser3537Tyr
ENST00000423118.5:c.10607C>A (PKD1)	ENSP00000399501.1:p.Ser3536Tyr
ENST00000472659.1:n.47C>A (PKD1)
ENST00000487932.5:c.5172C>A (PKD1)	ENSP00000457132.1:n.5172C>A
NM_000296.3:c.10607C>A (PKD1)	NP_000287.3:p.Ser3536Tyr
NM_001009944.2:c.10610C>A (PKD1)	NP_001009944.2:p.Ser3537Tyr
XM_005255370.2:c.7565C>A (PKD1)	XP_005255427.1:p.Ser2522Tyr
XM_011522525.1:c.10688C>A (PKD1)	XP_011520827.1:p.Ser3563Tyr
XM_011522526.1:c.10685C>A (PKD1)	XP_011520828.1:p.Ser3562Tyr
XM_011522527.1:c.10670C>A (PKD1)	XP_011520829.1:p.Ser3557Tyr
XM_011522528.1:c.10664C>A (PKD1)	XP_011520830.1:p.Ser3555Tyr
XM_011522529.1:c.10661C>A (PKD1)	XP_011520831.1:p.Ser3554Tyr
XM_011522530.1:c.10634C>A (PKD1)	XP_011520832.1:p.Ser3545Tyr
XM_011522531.1:c.10616C>A (PKD1)	XP_011520833.1:p.Ser3539Tyr
XM_011522532.1:c.10562C>A (PKD1)	XP_011520834.1:p.Ser3521Tyr
XM_011522533.1:c.10481C>A (PKD1)	XP_011520835.1:p.Ser3494Tyr
XM_011522534.1:c.10424C>A (PKD1)	XP_011520836.1:p.Ser3475Tyr
XM_011522535.1:c.8510C>A (PKD1)	XP_011520837.1:p.Ser2837Tyr
XM_011522537.1:c.7688C>A (PKD1)	XP_011520839.1:p.Ser2563Tyr
XR_932867.1:n.10703C>A (PKD1)
XR_932868.1:n.10703C>A (PKD1)
XR_932869.1:n.10703C>A (PKD1)
XR_932870.1:n.10703C>A (PKD1)
XR_933000.1:n.214-578G>T (PKD1-AS1)
XR_933001.1:n.304-621G>T (PKD1-AS1)
XR_933002.1:n.213-578G>T (PKD1-AS1)
XR_933003.1:n.213-621G>T (PKD1-AS1)
NR_135175.1:n.304-621G>T (PKD1-AS1)
XM_005255370.3:c.7565C>A (PKD1)	XP_005255427.1:p.Ser2522Tyr
XM_011522528.3:c.10664C>A (PKD1)	XP_011520830.1:p.Ser3555Tyr
XM_011522529.2:c.10661C>A (PKD1)	XP_011520831.1:p.Ser3554Tyr
XM_011522537.2:c.7688C>A (PKD1)	XP_011520839.1:p.Ser2563Tyr
XM_024450298.1:c.10730C>A (PKD1)	XP_024306066.1:p.Ser3577Tyr
XM_024450299.1:c.10658C>A (PKD1)	XP_024306067.1:p.Ser3553Tyr
XM_024450300.1:c.10520C>A (PKD1)	XP_024306068.1:p.Ser3507Tyr
XM_024450301.1:c.8606C>A (PKD1)	XP_024306069.1:p.Ser2869Tyr
NM_000296.4:c.10607C>A (PKD1)	NP_000287.4:p.Ser3536Tyr
NM_001009944.3:c.10610C>A (PKD1) MANE Select	NP_001009944.3:p.Ser3537Tyr