Canonical Allele Identifier: CA493044688

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089957G>T , CM000678.2:g.2089957G>T	GRCh38
NC_000016.9:g.2139958G>T , CM000678.1:g.2139958G>T	GRCh37
NC_000016.8:g.2079959G>T	NCBI36
NG_005895.1:g.45652G>T , LRG_487:g.45652G>T
NG_008617.1:g.53264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12682C>A MANE Select	ENSP00000262304.4:p.Arg4228=
ENST00000262304.8:c.12682C>A	ENSP00000262304.4:p.Arg4228=
ENST00000423118.5:c.12679C>A	ENSP00000399501.1:p.Arg4227=
ENST00000472577.1:n.710C>A
NM_000296.3:c.12679C>A	NP_000287.3:p.Arg4227=
NM_001009944.2:c.12682C>A	NP_001009944.2:p.Arg4228=
XM_005255370.2:c.9637C>A	XP_005255427.1:p.Arg3213=
XM_011522525.1:c.12760C>A	XP_011520827.1:p.Arg4254=
XM_011522526.1:c.12757C>A	XP_011520828.1:p.Arg4253=
XM_011522527.1:c.12742C>A	XP_011520829.1:p.Arg4248=
XM_011522528.1:c.12736C>A	XP_011520830.1:p.Arg4246=
XM_011522529.1:c.12733C>A	XP_011520831.1:p.Arg4245=
XM_011522530.1:c.12706C>A	XP_011520832.1:p.Arg4236=
XM_011522531.1:c.12688C>A	XP_011520833.1:p.Arg4230=
XM_011522532.1:c.12634C>A	XP_011520834.1:p.Arg4212=
XM_011522533.1:c.12553C>A	XP_011520835.1:p.Arg4185=
XM_011522534.1:c.12496C>A	XP_011520836.1:p.Arg4166=
XM_011522535.1:c.10582C>A	XP_011520837.1:p.Arg3528=
XM_011522537.1:c.9760C>A	XP_011520839.1:p.Arg3254=
XR_932867.1:n.12600C>A
XM_005255370.3:c.9637C>A	XP_005255427.1:p.Arg3213=
XM_011522528.3:c.12736C>A	XP_011520830.1:p.Arg4246=
XM_011522529.2:c.12733C>A	XP_011520831.1:p.Arg4245=
XM_011522537.2:c.9760C>A	XP_011520839.1:p.Arg3254=
XM_024450298.1:c.12802C>A	XP_024306066.1:p.Arg4268=
XM_024450299.1:c.12730C>A	XP_024306067.1:p.Arg4244=
XM_024450300.1:c.12592C>A	XP_024306068.1:p.Arg4198=
XM_024450301.1:c.10678C>A	XP_024306069.1:p.Arg3560=
NM_000296.4:c.12679C>A	NP_000287.4:p.Arg4227=
NM_001009944.3:c.12682C>A MANE Select	NP_001009944.3:p.Arg4228=