Canonical Allele Identifier: CA493044980

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1207361578
• gnomAD v2: 16-2144130-G-A
• gnomAD v4: 16-2094129-G-A
• MyVariant Identifiers: chr16:g.2144130G>A (hg19) ; chr16:g.2094129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094129G>A , CM000678.2:g.2094129G>A	GRCh38
NC_000016.9:g.2144130G>A , CM000678.1:g.2144130G>A	GRCh37
NC_000016.8:g.2084131G>A	NCBI36
NG_008617.1:g.49092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10581C>T (PKD1) MANE Select	ENSP00000262304.4:p.Asn3527=
ENST00000262304.8:c.10581C>T (PKD1)	ENSP00000262304.4:p.Asn3527=
ENST00000423118.5:c.10578C>T (PKD1)	ENSP00000399501.1:p.Asn3526=
ENST00000472659.1:n.18C>T (PKD1)
ENST00000487932.5:c.5143C>T (PKD1)	ENSP00000457132.1:n.5143C>T
NM_000296.3:c.10578C>T (PKD1)	NP_000287.3:p.Asn3526=
NM_001009944.2:c.10581C>T (PKD1)	NP_001009944.2:p.Asn3527=
XM_005255370.2:c.7536C>T (PKD1)	XP_005255427.1:p.Asn2512=
XM_011522525.1:c.10659C>T (PKD1)	XP_011520827.1:p.Asn3553=
XM_011522526.1:c.10656C>T (PKD1)	XP_011520828.1:p.Asn3552=
XM_011522527.1:c.10641C>T (PKD1)	XP_011520829.1:p.Asn3547=
XM_011522528.1:c.10635C>T (PKD1)	XP_011520830.1:p.Asn3545=
XM_011522529.1:c.10632C>T (PKD1)	XP_011520831.1:p.Asn3544=
XM_011522530.1:c.10605C>T (PKD1)	XP_011520832.1:p.Asn3535=
XM_011522531.1:c.10587C>T (PKD1)	XP_011520833.1:p.Asn3529=
XM_011522532.1:c.10533C>T (PKD1)	XP_011520834.1:p.Asn3511=
XM_011522533.1:c.10452C>T (PKD1)	XP_011520835.1:p.Asn3484=
XM_011522534.1:c.10395C>T (PKD1)	XP_011520836.1:p.Asn3465=
XM_011522535.1:c.8481C>T (PKD1)	XP_011520837.1:p.Asn2827=
XM_011522537.1:c.7659C>T (PKD1)	XP_011520839.1:p.Asn2553=
XR_932867.1:n.10674C>T (PKD1)
XR_932868.1:n.10674C>T (PKD1)
XR_932869.1:n.10674C>T (PKD1)
XR_932870.1:n.10674C>T (PKD1)
XR_933000.1:n.214-549G>A (PKD1-AS1)
XR_933001.1:n.304-592G>A (PKD1-AS1)
XR_933002.1:n.213-549G>A (PKD1-AS1)
XR_933003.1:n.213-592G>A (PKD1-AS1)
NR_135175.1:n.304-592G>A (PKD1-AS1)
XM_005255370.3:c.7536C>T (PKD1)	XP_005255427.1:p.Asn2512=
XM_011522528.3:c.10635C>T (PKD1)	XP_011520830.1:p.Asn3545=
XM_011522529.2:c.10632C>T (PKD1)	XP_011520831.1:p.Asn3544=
XM_011522537.2:c.7659C>T (PKD1)	XP_011520839.1:p.Asn2553=
XM_024450298.1:c.10701C>T (PKD1)	XP_024306066.1:p.Asn3567=
XM_024450299.1:c.10629C>T (PKD1)	XP_024306067.1:p.Asn3543=
XM_024450300.1:c.10491C>T (PKD1)	XP_024306068.1:p.Asn3497=
XM_024450301.1:c.8577C>T (PKD1)	XP_024306069.1:p.Asn2859=
NM_000296.4:c.10578C>T (PKD1)	NP_000287.4:p.Asn3526=
NM_001009944.3:c.10581C>T (PKD1) MANE Select	NP_001009944.3:p.Asn3527=