Canonical Allele Identifier: CA367465931

Gene: PKD1L1 HUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47853147A>T , CM000669.2:g.47853147A>T	GRCh38
NC_000007.13:g.47892745A>T , CM000669.1:g.47892745A>T	GRCh37
NC_000007.12:g.47859270A>T	NCBI36
NG_052801.1:g.110476T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.4940T>A (PKD1L1) MANE Select	NP_612152.1:p.Ile1647Lys
ENST00000289672.7:c.4940T>A (PKD1L1) MANE Select	ENSP00000289672.2:p.Ile1647Lys
NM_138295.3:c.4940T>A (PKD1L1)	NP_612152.1:p.Ile1647Lys
NM_138295.4:c.4940T>A (PKD1L1)	NP_612152.1:p.Ile1647Lys
ENST00000289672.6:c.4940T>A (PKD1L1)	ENSP00000289672.2:p.Ile1647Lys
ENST00000436444.5:c.*1170+111039T>A (HUS1)	ENSP00000403844.1:n.*1170+111039T>A
ENST00000685709.1:c.4772T>A (PKD1L1)	ENSP00000509540.1:p.Ile1591Lys
ENST00000690269.1:c.4940T>A (PKD1L1)	ENSP00000510743.1:p.Ile1647Lys
XM_011515163.1:c.4772T>A (PKD1L1)	XP_011513465.1:p.Ile1591Lys
XM_017011798.2:c.5117T>A (PKD1L1)	XP_016867287.1:p.Ile1706Lys