Canonical Allele Identifier: CA7831949

Gene: PKD1

Linked Data

• dbSNP Id: rs561473410
• ExAC: 16:2159625 C / T
• gnomAD v2: 16-2159625-C-T
• gnomAD v3: 16-2109624-C-T
• gnomAD v4: 16-2109624-C-T
• MyVariant Identifiers: chr16:g.2159625C>T (hg19) ; chr16:g.2109624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109624C>T , CM000678.2:g.2109624C>T	GRCh38
NC_000016.9:g.2159625C>T , CM000678.1:g.2159625C>T	GRCh37
NC_000016.8:g.2099626C>T	NCBI36
NG_008617.1:g.31275G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5543G>A MANE Select	ENSP00000262304.4:p.Arg1848His
ENST00000262304.8:c.5543G>A	ENSP00000262304.4:p.Arg1848His
ENST00000415938.7:n.311-2676G>A
ENST00000423118.5:c.5543G>A	ENSP00000399501.1:p.Arg1848His
ENST00000468674.5:n.431-274G>A
ENST00000483024.1:c.233+2192G>A
ENST00000483731.5:n.791-2676G>A
ENST00000487932.5:c.230G>A	ENSP00000457132.1:p.Arg77His
ENST00000488185.2:c.473-1266G>A
ENST00000565639.6:n.774-2676G>A
ENST00000568591.5:c.2227-2676G>A	ENSP00000457162.1:n.2227-2676G>A
ENST00000569983.5:n.422-2676G>A
NM_000296.3:c.5543G>A	NP_000287.3:p.Arg1848His
NM_001009944.2:c.5543G>A	NP_001009944.2:p.Arg1848His
XM_005255370.2:c.2498G>A	XP_005255427.1:p.Arg833His
XM_011522525.1:c.5621G>A	XP_011520827.1:p.Arg1874His
XM_011522526.1:c.5621G>A	XP_011520828.1:p.Arg1874His
XM_011522527.1:c.5621G>A	XP_011520829.1:p.Arg1874His
XM_011522528.1:c.5597G>A	XP_011520830.1:p.Arg1866His
XM_011522529.1:c.5597G>A	XP_011520831.1:p.Arg1866His
XM_011522530.1:c.5567G>A	XP_011520832.1:p.Arg1856His
XM_011522531.1:c.5549G>A	XP_011520833.1:p.Arg1850His
XM_011522532.1:c.5495G>A	XP_011520834.1:p.Arg1832His
XM_011522533.1:c.5414G>A	XP_011520835.1:p.Arg1805His
XM_011522534.1:c.5357G>A	XP_011520836.1:p.Arg1786His
XM_011522535.1:c.3443G>A	XP_011520837.1:p.Arg1148His
XM_011522536.1:c.5621G>A	XP_011520838.1:p.Arg1874His
XM_011522537.1:c.2621G>A	XP_011520839.1:p.Arg874His
XR_932867.1:n.5636G>A
XR_932868.1:n.5636G>A
XR_932869.1:n.5636G>A
XR_932870.1:n.5636G>A
XM_005255370.3:c.2498G>A	XP_005255427.1:p.Arg833His
XM_011522528.3:c.5597G>A	XP_011520830.1:p.Arg1866His
XM_011522529.2:c.5597G>A	XP_011520831.1:p.Arg1866His
XM_011522537.2:c.2621G>A	XP_011520839.1:p.Arg874His
XM_024450298.1:c.5663G>A	XP_024306066.1:p.Arg1888His
XM_024450299.1:c.5591G>A	XP_024306067.1:p.Arg1864His
XM_024450300.1:c.5453G>A	XP_024306068.1:p.Arg1818His
XM_024450301.1:c.3539G>A	XP_024306069.1:p.Arg1180His
NM_000296.4:c.5543G>A	NP_000287.4:p.Arg1848His
NM_001009944.3:c.5543G>A MANE Select	NP_001009944.3:p.Arg1848His