Canonical Allele Identifier: CA394376415

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159625C>A (hg19) ; chr16:g.2109624C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5543G>T MANE Select	ENSP00000262304.4:p.Arg1848Leu
ENST00000262304.8:c.5543G>T	ENSP00000262304.4:p.Arg1848Leu
ENST00000415938.7:n.311-2676G>T
ENST00000423118.5:c.5543G>T	ENSP00000399501.1:p.Arg1848Leu
ENST00000468674.5:n.431-274G>T
ENST00000483024.1:c.233+2192G>T
ENST00000483731.5:n.791-2676G>T
ENST00000487932.5:c.230G>T	ENSP00000457132.1:p.Arg77Leu
ENST00000488185.2:c.473-1266G>T
ENST00000565639.6:n.774-2676G>T
ENST00000568591.5:c.2227-2676G>T	ENSP00000457162.1:n.2227-2676G>T
ENST00000569983.5:n.422-2676G>T
NM_000296.3:c.5543G>T	NP_000287.3:p.Arg1848Leu
NM_001009944.2:c.5543G>T	NP_001009944.2:p.Arg1848Leu
XM_005255370.2:c.2498G>T	XP_005255427.1:p.Arg833Leu
XM_011522525.1:c.5621G>T	XP_011520827.1:p.Arg1874Leu
XM_011522526.1:c.5621G>T	XP_011520828.1:p.Arg1874Leu
XM_011522527.1:c.5621G>T	XP_011520829.1:p.Arg1874Leu
XM_011522528.1:c.5597G>T	XP_011520830.1:p.Arg1866Leu
XM_011522529.1:c.5597G>T	XP_011520831.1:p.Arg1866Leu
XM_011522530.1:c.5567G>T	XP_011520832.1:p.Arg1856Leu
XM_011522531.1:c.5549G>T	XP_011520833.1:p.Arg1850Leu
XM_011522532.1:c.5495G>T	XP_011520834.1:p.Arg1832Leu
XM_011522533.1:c.5414G>T	XP_011520835.1:p.Arg1805Leu
XM_011522534.1:c.5357G>T	XP_011520836.1:p.Arg1786Leu
XM_011522535.1:c.3443G>T	XP_011520837.1:p.Arg1148Leu
XM_011522536.1:c.5621G>T	XP_011520838.1:p.Arg1874Leu
XM_011522537.1:c.2621G>T	XP_011520839.1:p.Arg874Leu
XR_932867.1:n.5636G>T
XR_932868.1:n.5636G>T
XR_932869.1:n.5636G>T
XR_932870.1:n.5636G>T
XM_005255370.3:c.2498G>T	XP_005255427.1:p.Arg833Leu
XM_011522528.3:c.5597G>T	XP_011520830.1:p.Arg1866Leu
XM_011522529.2:c.5597G>T	XP_011520831.1:p.Arg1866Leu
XM_011522537.2:c.2621G>T	XP_011520839.1:p.Arg874Leu
XM_024450298.1:c.5663G>T	XP_024306066.1:p.Arg1888Leu
XM_024450299.1:c.5591G>T	XP_024306067.1:p.Arg1864Leu
XM_024450300.1:c.5453G>T	XP_024306068.1:p.Arg1818Leu
XM_024450301.1:c.3539G>T	XP_024306069.1:p.Arg1180Leu
NM_000296.4:c.5543G>T	NP_000287.4:p.Arg1848Leu
NM_001009944.3:c.5543G>T MANE Select	NP_001009944.3:p.Arg1848Leu