Canonical Allele Identifier: CA493047939

Gene: PKD1

Linked Data

• ClinVar Variation Id: 3059323
• ClinVar RCV Id: RCV003979880
• gnomAD v4: 16-2109626-C-T
• MyVariant Identifiers: chr16:g.2159627C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109626C>T , CM000678.2:g.2109626C>T	GRCh38
NC_000016.9:g.2159627C>T , CM000678.1:g.2159627C>T	GRCh37
NC_000016.8:g.2099628C>T	NCBI36
NG_008617.1:g.31273G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5541G>A MANE Select	ENSP00000262304.4:p.Lys1847=
ENST00000262304.8:c.5541G>A	ENSP00000262304.4:p.Lys1847=
ENST00000415938.7:n.311-2678G>A
ENST00000423118.5:c.5541G>A	ENSP00000399501.1:p.Lys1847=
ENST00000468674.5:n.431-276G>A
ENST00000483024.1:c.233+2190G>A
ENST00000483731.5:n.791-2678G>A
ENST00000487932.5:c.228G>A	ENSP00000457132.1:p.Lys76=
ENST00000488185.2:c.473-1268G>A
ENST00000565639.6:n.774-2678G>A
ENST00000568591.5:c.2227-2678G>A	ENSP00000457162.1:n.2227-2678G>A
ENST00000569983.5:n.422-2678G>A
NM_000296.3:c.5541G>A	NP_000287.3:p.Lys1847=
NM_001009944.2:c.5541G>A	NP_001009944.2:p.Lys1847=
XM_005255370.2:c.2496G>A	XP_005255427.1:p.Lys832=
XM_011522525.1:c.5619G>A	XP_011520827.1:p.Lys1873=
XM_011522526.1:c.5619G>A	XP_011520828.1:p.Lys1873=
XM_011522527.1:c.5619G>A	XP_011520829.1:p.Lys1873=
XM_011522528.1:c.5595G>A	XP_011520830.1:p.Lys1865=
XM_011522529.1:c.5595G>A	XP_011520831.1:p.Lys1865=
XM_011522530.1:c.5565G>A	XP_011520832.1:p.Lys1855=
XM_011522531.1:c.5547G>A	XP_011520833.1:p.Lys1849=
XM_011522532.1:c.5493G>A	XP_011520834.1:p.Lys1831=
XM_011522533.1:c.5412G>A	XP_011520835.1:p.Lys1804=
XM_011522534.1:c.5355G>A	XP_011520836.1:p.Lys1785=
XM_011522535.1:c.3441G>A	XP_011520837.1:p.Lys1147=
XM_011522536.1:c.5619G>A	XP_011520838.1:p.Lys1873=
XM_011522537.1:c.2619G>A	XP_011520839.1:p.Lys873=
XR_932867.1:n.5634G>A
XR_932868.1:n.5634G>A
XR_932869.1:n.5634G>A
XR_932870.1:n.5634G>A
XM_005255370.3:c.2496G>A	XP_005255427.1:p.Lys832=
XM_011522528.3:c.5595G>A	XP_011520830.1:p.Lys1865=
XM_011522529.2:c.5595G>A	XP_011520831.1:p.Lys1865=
XM_011522537.2:c.2619G>A	XP_011520839.1:p.Lys873=
XM_024450298.1:c.5661G>A	XP_024306066.1:p.Lys1887=
XM_024450299.1:c.5589G>A	XP_024306067.1:p.Lys1863=
XM_024450300.1:c.5451G>A	XP_024306068.1:p.Lys1817=
XM_024450301.1:c.3537G>A	XP_024306069.1:p.Lys1179=
NM_000296.4:c.5541G>A	NP_000287.4:p.Lys1847=
NM_001009944.3:c.5541G>A MANE Select	NP_001009944.3:p.Lys1847=