Canonical Allele Identifier: CA492962495

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs757906940
• MyVariant Identifiers: chr16:g.2142566G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092565G>C , CM000678.2:g.2092565G>C	GRCh38
NC_000016.9:g.2142566G>C , CM000678.1:g.2142566G>C	GRCh37
NC_000016.8:g.2082567G>C	NCBI36
NG_008617.1:g.50656C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11184C>G (PKD1) MANE Select	ENSP00000262304.4:p.Ala3728=
ENST00000262304.8:c.11184C>G (PKD1)	ENSP00000262304.4:p.Ala3728=
ENST00000423118.5:c.11181C>G (PKD1)	ENSP00000399501.1:p.Ala3727=
ENST00000485120.1:n.33C>G (PKD1)
ENST00000487932.5:c.5746C>G (PKD1)	ENSP00000457132.1:n.5746C>G
ENST00000562425.1:c.297C>G (PKD1)
ENST00000567355.1:n.347C>G (PKD1)
NM_000296.3:c.11181C>G (PKD1)	NP_000287.3:p.Ala3727=
NM_001009944.2:c.11184C>G (PKD1)	NP_001009944.2:p.Ala3728=
XM_005255370.2:c.8139C>G (PKD1)	XP_005255427.1:p.Ala2713=
XM_011522525.1:c.11262C>G (PKD1)	XP_011520827.1:p.Ala3754=
XM_011522526.1:c.11259C>G (PKD1)	XP_011520828.1:p.Ala3753=
XM_011522527.1:c.11244C>G (PKD1)	XP_011520829.1:p.Ala3748=
XM_011522528.1:c.11238C>G (PKD1)	XP_011520830.1:p.Ala3746=
XM_011522529.1:c.11235C>G (PKD1)	XP_011520831.1:p.Ala3745=
XM_011522530.1:c.11208C>G (PKD1)	XP_011520832.1:p.Ala3736=
XM_011522531.1:c.11190C>G (PKD1)	XP_011520833.1:p.Ala3730=
XM_011522532.1:c.11136C>G (PKD1)	XP_011520834.1:p.Ala3712=
XM_011522533.1:c.11055C>G (PKD1)	XP_011520835.1:p.Ala3685=
XM_011522534.1:c.10998C>G (PKD1)	XP_011520836.1:p.Ala3666=
XM_011522535.1:c.9084C>G (PKD1)	XP_011520837.1:p.Ala3028=
XM_011522537.1:c.8262C>G (PKD1)	XP_011520839.1:p.Ala2754=
XR_932867.1:n.11277C>G (PKD1)
XR_932868.1:n.11110-377C>G (PKD1)
XR_932869.1:n.11110-377C>G (PKD1)
XR_932870.1:n.11137C>G (PKD1)
XR_933000.1:n.90-324G>C (PKD1-AS1)
XR_933001.1:n.180-324G>C (PKD1-AS1)
XR_933002.1:n.89-324G>C (PKD1-AS1)
XR_933003.1:n.89-324G>C (PKD1-AS1)
NR_135175.1:n.180-324G>C (PKD1-AS1)
XM_005255370.3:c.8139C>G (PKD1)	XP_005255427.1:p.Ala2713=
XM_011522528.3:c.11238C>G (PKD1)	XP_011520830.1:p.Ala3746=
XM_011522529.2:c.11235C>G (PKD1)	XP_011520831.1:p.Ala3745=
XM_011522537.2:c.8262C>G (PKD1)	XP_011520839.1:p.Ala2754=
XM_024450298.1:c.11304C>G (PKD1)	XP_024306066.1:p.Ala3768=
XM_024450299.1:c.11232C>G (PKD1)	XP_024306067.1:p.Ala3744=
XM_024450300.1:c.11094C>G (PKD1)	XP_024306068.1:p.Ala3698=
XM_024450301.1:c.9180C>G (PKD1)	XP_024306069.1:p.Ala3060=
NM_000296.4:c.11181C>G (PKD1)	NP_000287.4:p.Ala3727=
NM_001009944.3:c.11184C>G (PKD1) MANE Select	NP_001009944.3:p.Ala3728=