Canonical Allele Identifier: CA394336257

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1254976978
• gnomAD v2: 16-2142528-C-A
• gnomAD v4: 16-2092527-C-A
• MyVariant Identifiers: chr16:g.2142528C>A (hg19) ; chr16:g.2092527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092527C>A , CM000678.2:g.2092527C>A	GRCh38
NC_000016.9:g.2142528C>A , CM000678.1:g.2142528C>A	GRCh37
NC_000016.8:g.2082529C>A	NCBI36
NG_008617.1:g.50694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11222G>T (PKD1) MANE Select	ENSP00000262304.4:p.Ser3741Ile
ENST00000262304.8:c.11222G>T (PKD1)	ENSP00000262304.4:p.Ser3741Ile
ENST00000423118.5:c.11219G>T (PKD1)	ENSP00000399501.1:p.Ser3740Ile
ENST00000485120.1:n.71G>T (PKD1)
ENST00000487932.5:c.5784G>T (PKD1)	ENSP00000457132.1:n.5784G>T
ENST00000562425.1:c.335G>T (PKD1)
ENST00000567355.1:n.385G>T (PKD1)
NM_000296.3:c.11219G>T (PKD1)	NP_000287.3:p.Ser3740Ile
NM_001009944.2:c.11222G>T (PKD1)	NP_001009944.2:p.Ser3741Ile
XM_005255370.2:c.8177G>T (PKD1)	XP_005255427.1:p.Ser2726Ile
XM_011522525.1:c.11300G>T (PKD1)	XP_011520827.1:p.Ser3767Ile
XM_011522526.1:c.11297G>T (PKD1)	XP_011520828.1:p.Ser3766Ile
XM_011522527.1:c.11282G>T (PKD1)	XP_011520829.1:p.Ser3761Ile
XM_011522528.1:c.11276G>T (PKD1)	XP_011520830.1:p.Ser3759Ile
XM_011522529.1:c.11273G>T (PKD1)	XP_011520831.1:p.Ser3758Ile
XM_011522530.1:c.11246G>T (PKD1)	XP_011520832.1:p.Ser3749Ile
XM_011522531.1:c.11228G>T (PKD1)	XP_011520833.1:p.Ser3743Ile
XM_011522532.1:c.11174G>T (PKD1)	XP_011520834.1:p.Ser3725Ile
XM_011522533.1:c.11093G>T (PKD1)	XP_011520835.1:p.Ser3698Ile
XM_011522534.1:c.11036G>T (PKD1)	XP_011520836.1:p.Ser3679Ile
XM_011522535.1:c.9122G>T (PKD1)	XP_011520837.1:p.Ser3041Ile
XM_011522537.1:c.8300G>T (PKD1)	XP_011520839.1:p.Ser2767Ile
XR_932867.1:n.11315G>T (PKD1)
XR_932868.1:n.11110-339G>T (PKD1)
XR_932869.1:n.11110-339G>T (PKD1)
XR_932870.1:n.11175G>T (PKD1)
XR_933000.1:n.90-362C>A (PKD1-AS1)
XR_933001.1:n.180-362C>A (PKD1-AS1)
XR_933002.1:n.89-362C>A (PKD1-AS1)
XR_933003.1:n.89-362C>A (PKD1-AS1)
NR_135175.1:n.180-362C>A (PKD1-AS1)
XM_005255370.3:c.8177G>T (PKD1)	XP_005255427.1:p.Ser2726Ile
XM_011522528.3:c.11276G>T (PKD1)	XP_011520830.1:p.Ser3759Ile
XM_011522529.2:c.11273G>T (PKD1)	XP_011520831.1:p.Ser3758Ile
XM_011522537.2:c.8300G>T (PKD1)	XP_011520839.1:p.Ser2767Ile
XM_024450298.1:c.11342G>T (PKD1)	XP_024306066.1:p.Ser3781Ile
XM_024450299.1:c.11270G>T (PKD1)	XP_024306067.1:p.Ser3757Ile
XM_024450300.1:c.11132G>T (PKD1)	XP_024306068.1:p.Ser3711Ile
XM_024450301.1:c.9218G>T (PKD1)	XP_024306069.1:p.Ser3073Ile
NM_000296.4:c.11219G>T (PKD1)	NP_000287.4:p.Ser3740Ile
NM_001009944.3:c.11222G>T (PKD1) MANE Select	NP_001009944.3:p.Ser3741Ile