Canonical Allele Identifier: CA394370497

Gene: PKD1

Linked Data

• ClinVar Variation Id: 992998
• ClinVar RCV Id: RCV001283799
• dbSNP Id: rs1367567191
• MyVariant Identifiers: chr16:g.2156617G>C (hg19) ; chr16:g.2106616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106616G>C , CM000678.2:g.2106616G>C	GRCh38
NC_000016.9:g.2156617G>C , CM000678.1:g.2156617G>C	GRCh37
NC_000016.8:g.2096618G>C	NCBI36
NG_008617.1:g.34283C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7271C>G MANE Select	ENSP00000262304.4:p.Thr2424Arg
ENST00000262304.8:c.7271C>G	ENSP00000262304.4:p.Thr2424Arg
ENST00000415938.7:n.516C>G
ENST00000423118.5:c.7271C>G	ENSP00000399501.1:p.Thr2424Arg
ENST00000483024.1:c.439C>G
ENST00000483558.5:n.330C>G
ENST00000483731.5:n.996C>G
ENST00000486339.6:n.1017C>G
ENST00000487932.5:c.1958C>G	ENSP00000457132.1:p.Thr653Arg
ENST00000496574.6:n.1274C>G
ENST00000565639.6:n.979C>G
ENST00000568591.5:c.2432C>G	ENSP00000457162.1:n.2432C>G
ENST00000569983.5:n.627C>G
NM_000296.3:c.7271C>G	NP_000287.3:p.Thr2424Arg
NM_001009944.2:c.7271C>G	NP_001009944.2:p.Thr2424Arg
XM_005255370.2:c.4226C>G	XP_005255427.1:p.Thr1409Arg
XM_011522525.1:c.7349C>G	XP_011520827.1:p.Thr2450Arg
XM_011522526.1:c.7349C>G	XP_011520828.1:p.Thr2450Arg
XM_011522527.1:c.7349C>G	XP_011520829.1:p.Thr2450Arg
XM_011522528.1:c.7325C>G	XP_011520830.1:p.Thr2442Arg
XM_011522529.1:c.7325C>G	XP_011520831.1:p.Thr2442Arg
XM_011522530.1:c.7295C>G	XP_011520832.1:p.Thr2432Arg
XM_011522531.1:c.7277C>G	XP_011520833.1:p.Thr2426Arg
XM_011522532.1:c.7223C>G	XP_011520834.1:p.Thr2408Arg
XM_011522533.1:c.7142C>G	XP_011520835.1:p.Thr2381Arg
XM_011522534.1:c.7085C>G	XP_011520836.1:p.Thr2362Arg
XM_011522535.1:c.5171C>G	XP_011520837.1:p.Thr1724Arg
XM_011522536.1:c.7349C>G	XP_011520838.1:p.Thr2450Arg
XM_011522537.1:c.4349C>G	XP_011520839.1:p.Thr1450Arg
XR_932867.1:n.7364C>G
XR_932868.1:n.7364C>G
XR_932869.1:n.7364C>G
XR_932870.1:n.7364C>G
XM_005255370.3:c.4226C>G	XP_005255427.1:p.Thr1409Arg
XM_011522528.3:c.7325C>G	XP_011520830.1:p.Thr2442Arg
XM_011522529.2:c.7325C>G	XP_011520831.1:p.Thr2442Arg
XM_011522537.2:c.4349C>G	XP_011520839.1:p.Thr1450Arg
XM_024450298.1:c.7391C>G	XP_024306066.1:p.Thr2464Arg
XM_024450299.1:c.7319C>G	XP_024306067.1:p.Thr2440Arg
XM_024450300.1:c.7181C>G	XP_024306068.1:p.Thr2394Arg
XM_024450301.1:c.5267C>G	XP_024306069.1:p.Thr1756Arg
NM_000296.4:c.7271C>G	NP_000287.4:p.Thr2424Arg
NM_001009944.3:c.7271C>G MANE Select	NP_001009944.3:p.Thr2424Arg