Canonical Allele Identifier: CA394336255

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142527G>T (hg19) ; chr16:g.2092526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092526G>T , CM000678.2:g.2092526G>T	GRCh38
NC_000016.9:g.2142527G>T , CM000678.1:g.2142527G>T	GRCh37
NC_000016.8:g.2082528G>T	NCBI36
NG_008617.1:g.50695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11223C>A (PKD1) MANE Select	ENSP00000262304.4:p.Ser3741Arg
ENST00000262304.8:c.11223C>A (PKD1)	ENSP00000262304.4:p.Ser3741Arg
ENST00000423118.5:c.11220C>A (PKD1)	ENSP00000399501.1:p.Ser3740Arg
ENST00000485120.1:n.72C>A (PKD1)
ENST00000487932.5:c.5785C>A (PKD1)	ENSP00000457132.1:n.5785C>A
ENST00000562425.1:c.336C>A (PKD1)
ENST00000567355.1:n.386C>A (PKD1)
NM_000296.3:c.11220C>A (PKD1)	NP_000287.3:p.Ser3740Arg
NM_001009944.2:c.11223C>A (PKD1)	NP_001009944.2:p.Ser3741Arg
XM_005255370.2:c.8178C>A (PKD1)	XP_005255427.1:p.Ser2726Arg
XM_011522525.1:c.11301C>A (PKD1)	XP_011520827.1:p.Ser3767Arg
XM_011522526.1:c.11298C>A (PKD1)	XP_011520828.1:p.Ser3766Arg
XM_011522527.1:c.11283C>A (PKD1)	XP_011520829.1:p.Ser3761Arg
XM_011522528.1:c.11277C>A (PKD1)	XP_011520830.1:p.Ser3759Arg
XM_011522529.1:c.11274C>A (PKD1)	XP_011520831.1:p.Ser3758Arg
XM_011522530.1:c.11247C>A (PKD1)	XP_011520832.1:p.Ser3749Arg
XM_011522531.1:c.11229C>A (PKD1)	XP_011520833.1:p.Ser3743Arg
XM_011522532.1:c.11175C>A (PKD1)	XP_011520834.1:p.Ser3725Arg
XM_011522533.1:c.11094C>A (PKD1)	XP_011520835.1:p.Ser3698Arg
XM_011522534.1:c.11037C>A (PKD1)	XP_011520836.1:p.Ser3679Arg
XM_011522535.1:c.9123C>A (PKD1)	XP_011520837.1:p.Ser3041Arg
XM_011522537.1:c.8301C>A (PKD1)	XP_011520839.1:p.Ser2767Arg
XR_932867.1:n.11316C>A (PKD1)
XR_932868.1:n.11110-338C>A (PKD1)
XR_932869.1:n.11110-338C>A (PKD1)
XR_932870.1:n.11176C>A (PKD1)
XR_933000.1:n.90-363G>T (PKD1-AS1)
XR_933001.1:n.180-363G>T (PKD1-AS1)
XR_933002.1:n.89-363G>T (PKD1-AS1)
XR_933003.1:n.89-363G>T (PKD1-AS1)
NR_135175.1:n.180-363G>T (PKD1-AS1)
XM_005255370.3:c.8178C>A (PKD1)	XP_005255427.1:p.Ser2726Arg
XM_011522528.3:c.11277C>A (PKD1)	XP_011520830.1:p.Ser3759Arg
XM_011522529.2:c.11274C>A (PKD1)	XP_011520831.1:p.Ser3758Arg
XM_011522537.2:c.8301C>A (PKD1)	XP_011520839.1:p.Ser2767Arg
XM_024450298.1:c.11343C>A (PKD1)	XP_024306066.1:p.Ser3781Arg
XM_024450299.1:c.11271C>A (PKD1)	XP_024306067.1:p.Ser3757Arg
XM_024450300.1:c.11133C>A (PKD1)	XP_024306068.1:p.Ser3711Arg
XM_024450301.1:c.9219C>A (PKD1)	XP_024306069.1:p.Ser3073Arg
NM_000296.4:c.11220C>A (PKD1)	NP_000287.4:p.Ser3740Arg
NM_001009944.3:c.11223C>A (PKD1) MANE Select	NP_001009944.3:p.Ser3741Arg