Canonical Allele Identifier: CA4252476

Gene: PKD1L1 HUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47831333C>T , CM000669.2:g.47831333C>T	GRCh38
NC_000007.13:g.47870931C>T , CM000669.1:g.47870931C>T	GRCh37
NC_000007.12:g.47837456C>T	NCBI36
NG_052801.1:g.132290G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.6357G>A (PKD1L1) MANE Select	NP_612152.1:p.Glu2119=
ENST00000289672.7:c.6357G>A (PKD1L1) MANE Select	ENSP00000289672.2:p.Glu2119=
NM_138295.3:c.6357G>A (PKD1L1)	NP_612152.1:p.Glu2119=
NM_138295.4:c.6357G>A (PKD1L1)	NP_612152.1:p.Glu2119=
ENST00000289672.6:c.6357G>A (PKD1L1)	ENSP00000289672.2:p.Glu2119=
ENST00000436444.5:c.*1170+132853G>A (HUS1)	ENSP00000403844.1:n.*1170+132853G>A
ENST00000685709.1:c.6189G>A (PKD1L1)	ENSP00000509540.1:p.Glu2063=
ENST00000686775.1:c.376+3006G>A (PKD1L1)
ENST00000690269.1:c.6357G>A (PKD1L1)	ENSP00000510743.1:p.Glu2119=
XM_011515163.1:c.6189G>A (PKD1L1)	XP_011513465.1:p.Glu2063=
XM_017011798.2:c.6534G>A (PKD1L1)	XP_016867287.1:p.Glu2178=