Canonical Allele Identifier: CA7832511

Gene: PKD1

Linked Data

• ClinVar Variation Id: 225439
• ClinVar RCV Id: RCV000490456 ; RCV001289050 ; RCV001722138 ; RCV001292387 ; RCV003982954
• dbSNP Id: rs55840049
• ExAC: 16:2161117 G / A
• gnomAD v2: 16-2161117-G-A
• gnomAD v3: 16-2111116-G-A
• gnomAD v4: 16-2111116-G-A
• MyVariant Identifiers: chr16:g.2161117G>A (hg19) ; chr16:g.2111116G>A (hg38)
• PubMed: PMID:17574468

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111116G>A , CM000678.2:g.2111116G>A	GRCh38
NC_000016.9:g.2161117G>A , CM000678.1:g.2161117G>A	GRCh37
NC_000016.8:g.2101118G>A	NCBI36
NG_008617.1:g.29783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.4051C>T MANE Select	ENSP00000262304.4:p.Arg1351Trp
ENST00000262304.8:c.4051C>T	ENSP00000262304.4:p.Arg1351Trp
ENST00000415938.7:n.310+1224C>T
ENST00000423118.5:c.4051C>T	ENSP00000399501.1:p.Arg1351Trp
ENST00000468674.5:n.430+1224C>T
ENST00000483024.1:c.233+700C>T
ENST00000483731.5:n.790+1224C>T
ENST00000488185.2:c.473-2758C>T
ENST00000565639.6:n.773+1224C>T
ENST00000568591.5:c.2226+1224C>T	ENSP00000457162.1:n.2226+1224C>T
ENST00000569983.5:n.421+1224C>T
NM_000296.3:c.4051C>T	NP_000287.3:p.Arg1351Trp
NM_001009944.2:c.4051C>T	NP_001009944.2:p.Arg1351Trp
XM_005255370.2:c.1006C>T	XP_005255427.1:p.Arg336Trp
XM_011522525.1:c.4129C>T	XP_011520827.1:p.Arg1377Trp
XM_011522526.1:c.4129C>T	XP_011520828.1:p.Arg1377Trp
XM_011522527.1:c.4129C>T	XP_011520829.1:p.Arg1377Trp
XM_011522528.1:c.4105C>T	XP_011520830.1:p.Arg1369Trp
XM_011522529.1:c.4105C>T	XP_011520831.1:p.Arg1369Trp
XM_011522530.1:c.4075C>T	XP_011520832.1:p.Arg1359Trp
XM_011522531.1:c.4057C>T	XP_011520833.1:p.Arg1353Trp
XM_011522532.1:c.4003C>T	XP_011520834.1:p.Arg1335Trp
XM_011522533.1:c.3922C>T	XP_011520835.1:p.Arg1308Trp
XM_011522534.1:c.3865C>T	XP_011520836.1:p.Arg1289Trp
XM_011522535.1:c.1951C>T	XP_011520837.1:p.Arg651Trp
XM_011522536.1:c.4129C>T	XP_011520838.1:p.Arg1377Trp
XM_011522537.1:c.1129C>T	XP_011520839.1:p.Arg377Trp
XR_932867.1:n.4144C>T
XR_932868.1:n.4144C>T
XR_932869.1:n.4144C>T
XR_932870.1:n.4144C>T
XM_005255370.3:c.1006C>T	XP_005255427.1:p.Arg336Trp
XM_011522528.3:c.4105C>T	XP_011520830.1:p.Arg1369Trp
XM_011522529.2:c.4105C>T	XP_011520831.1:p.Arg1369Trp
XM_011522537.2:c.1129C>T	XP_011520839.1:p.Arg377Trp
XM_024450298.1:c.4171C>T	XP_024306066.1:p.Arg1391Trp
XM_024450299.1:c.4099C>T	XP_024306067.1:p.Arg1367Trp
XM_024450300.1:c.3961C>T	XP_024306068.1:p.Arg1321Trp
XM_024450301.1:c.2047C>T	XP_024306069.1:p.Arg683Trp
NM_000296.4:c.4051C>T	NP_000287.4:p.Arg1351Trp
NM_001009944.3:c.4051C>T MANE Select	NP_001009944.3:p.Arg1351Trp