Canonical Allele Identifier: CA394341485

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2094129-G-C
• MyVariant Identifiers: chr16:g.2144130G>C (hg19) ; chr16:g.2094129G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10581C>G (PKD1) MANE Select	ENSP00000262304.4:p.Asn3527Lys
ENST00000262304.8:c.10581C>G (PKD1)	ENSP00000262304.4:p.Asn3527Lys
ENST00000423118.5:c.10578C>G (PKD1)	ENSP00000399501.1:p.Asn3526Lys
ENST00000472659.1:n.18C>G (PKD1)
ENST00000487932.5:c.5143C>G (PKD1)	ENSP00000457132.1:n.5143C>G
NM_000296.3:c.10578C>G (PKD1)	NP_000287.3:p.Asn3526Lys
NM_001009944.2:c.10581C>G (PKD1)	NP_001009944.2:p.Asn3527Lys
XM_005255370.2:c.7536C>G (PKD1)	XP_005255427.1:p.Asn2512Lys
XM_011522525.1:c.10659C>G (PKD1)	XP_011520827.1:p.Asn3553Lys
XM_011522526.1:c.10656C>G (PKD1)	XP_011520828.1:p.Asn3552Lys
XM_011522527.1:c.10641C>G (PKD1)	XP_011520829.1:p.Asn3547Lys
XM_011522528.1:c.10635C>G (PKD1)	XP_011520830.1:p.Asn3545Lys
XM_011522529.1:c.10632C>G (PKD1)	XP_011520831.1:p.Asn3544Lys
XM_011522530.1:c.10605C>G (PKD1)	XP_011520832.1:p.Asn3535Lys
XM_011522531.1:c.10587C>G (PKD1)	XP_011520833.1:p.Asn3529Lys
XM_011522532.1:c.10533C>G (PKD1)	XP_011520834.1:p.Asn3511Lys
XM_011522533.1:c.10452C>G (PKD1)	XP_011520835.1:p.Asn3484Lys
XM_011522534.1:c.10395C>G (PKD1)	XP_011520836.1:p.Asn3465Lys
XM_011522535.1:c.8481C>G (PKD1)	XP_011520837.1:p.Asn2827Lys
XM_011522537.1:c.7659C>G (PKD1)	XP_011520839.1:p.Asn2553Lys
XR_932867.1:n.10674C>G (PKD1)
XR_932868.1:n.10674C>G (PKD1)
XR_932869.1:n.10674C>G (PKD1)
XR_932870.1:n.10674C>G (PKD1)
XR_933000.1:n.214-549G>C (PKD1-AS1)
XR_933001.1:n.304-592G>C (PKD1-AS1)
XR_933002.1:n.213-549G>C (PKD1-AS1)
XR_933003.1:n.213-592G>C (PKD1-AS1)
NR_135175.1:n.304-592G>C (PKD1-AS1)
XM_005255370.3:c.7536C>G (PKD1)	XP_005255427.1:p.Asn2512Lys
XM_011522528.3:c.10635C>G (PKD1)	XP_011520830.1:p.Asn3545Lys
XM_011522529.2:c.10632C>G (PKD1)	XP_011520831.1:p.Asn3544Lys
XM_011522537.2:c.7659C>G (PKD1)	XP_011520839.1:p.Asn2553Lys
XM_024450298.1:c.10701C>G (PKD1)	XP_024306066.1:p.Asn3567Lys
XM_024450299.1:c.10629C>G (PKD1)	XP_024306067.1:p.Asn3543Lys
XM_024450300.1:c.10491C>G (PKD1)	XP_024306068.1:p.Asn3497Lys
XM_024450301.1:c.8577C>G (PKD1)	XP_024306069.1:p.Asn2859Lys
NM_000296.4:c.10578C>G (PKD1)	NP_000287.4:p.Asn3526Lys
NM_001009944.3:c.10581C>G (PKD1) MANE Select	NP_001009944.3:p.Asn3527Lys