Canonical Allele Identifier: CA394370500

Gene: PKD1

Linked Data

• ClinVar Variation Id: 1254605
• ClinVar RCV Id: RCV001658787 ; RCV002471131
• dbSNP Id: rs1367567191
• gnomAD v2: 16-2156617-G-A
• gnomAD v4: 16-2106616-G-A
• MyVariant Identifiers: chr16:g.2156617G>A (hg19) ; chr16:g.2106616G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7271C>T MANE Select	ENSP00000262304.4:p.Thr2424Met
ENST00000262304.8:c.7271C>T	ENSP00000262304.4:p.Thr2424Met
ENST00000415938.7:n.516C>T
ENST00000423118.5:c.7271C>T	ENSP00000399501.1:p.Thr2424Met
ENST00000483024.1:c.439C>T
ENST00000483558.5:n.330C>T
ENST00000483731.5:n.996C>T
ENST00000486339.6:n.1017C>T
ENST00000487932.5:c.1958C>T	ENSP00000457132.1:p.Thr653Met
ENST00000496574.6:n.1274C>T
ENST00000565639.6:n.979C>T
ENST00000568591.5:c.2432C>T	ENSP00000457162.1:n.2432C>T
ENST00000569983.5:n.627C>T
NM_000296.3:c.7271C>T	NP_000287.3:p.Thr2424Met
NM_001009944.2:c.7271C>T	NP_001009944.2:p.Thr2424Met
XM_005255370.2:c.4226C>T	XP_005255427.1:p.Thr1409Met
XM_011522525.1:c.7349C>T	XP_011520827.1:p.Thr2450Met
XM_011522526.1:c.7349C>T	XP_011520828.1:p.Thr2450Met
XM_011522527.1:c.7349C>T	XP_011520829.1:p.Thr2450Met
XM_011522528.1:c.7325C>T	XP_011520830.1:p.Thr2442Met
XM_011522529.1:c.7325C>T	XP_011520831.1:p.Thr2442Met
XM_011522530.1:c.7295C>T	XP_011520832.1:p.Thr2432Met
XM_011522531.1:c.7277C>T	XP_011520833.1:p.Thr2426Met
XM_011522532.1:c.7223C>T	XP_011520834.1:p.Thr2408Met
XM_011522533.1:c.7142C>T	XP_011520835.1:p.Thr2381Met
XM_011522534.1:c.7085C>T	XP_011520836.1:p.Thr2362Met
XM_011522535.1:c.5171C>T	XP_011520837.1:p.Thr1724Met
XM_011522536.1:c.7349C>T	XP_011520838.1:p.Thr2450Met
XM_011522537.1:c.4349C>T	XP_011520839.1:p.Thr1450Met
XR_932867.1:n.7364C>T
XR_932868.1:n.7364C>T
XR_932869.1:n.7364C>T
XR_932870.1:n.7364C>T
XM_005255370.3:c.4226C>T	XP_005255427.1:p.Thr1409Met
XM_011522528.3:c.7325C>T	XP_011520830.1:p.Thr2442Met
XM_011522529.2:c.7325C>T	XP_011520831.1:p.Thr2442Met
XM_011522537.2:c.4349C>T	XP_011520839.1:p.Thr1450Met
XM_024450298.1:c.7391C>T	XP_024306066.1:p.Thr2464Met
XM_024450299.1:c.7319C>T	XP_024306067.1:p.Thr2440Met
XM_024450300.1:c.7181C>T	XP_024306068.1:p.Thr2394Met
XM_024450301.1:c.5267C>T	XP_024306069.1:p.Thr1756Met
NM_000296.4:c.7271C>T	NP_000287.4:p.Thr2424Met
NM_001009944.3:c.7271C>T MANE Select	NP_001009944.3:p.Thr2424Met