Canonical Allele Identifier: CA367471543

Gene: PKD1L1 HUS1 PKD1L1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47812012G>T , CM000669.2:g.47812012G>T	GRCh38
NC_000007.13:g.47851610G>T , CM000669.1:g.47851610G>T	GRCh37
NC_000007.12:g.47818135G>T	NCBI36
NG_052801.1:g.151611C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.7386C>A (PKD1L1) MANE Select	NP_612152.1:p.Ser2462Arg
ENST00000289672.7:c.7386C>A (PKD1L1) MANE Select	ENSP00000289672.2:p.Ser2462Arg
NM_001302627.1:c.-93-1414G>T (PKD1L1-AS1)	NP_001289556.1:n.-93-1414G>T
NM_025031.2:c.109-6014G>T (PKD1L1-AS1)	NP_079307.2:n.109-6014G>T
NM_138295.3:c.7386C>A (PKD1L1)	NP_612152.1:p.Ser2462Arg
NM_138295.4:c.7386C>A (PKD1L1)	NP_612152.1:p.Ser2462Arg
NR_161268.1:n.154-6014G>T (PKD1L1-AS1)
NR_161269.1:n.154-1414G>T (PKD1L1-AS1)
ENST00000289672.6:c.7386C>A (PKD1L1)	ENSP00000289672.2:p.Ser2462Arg
ENST00000433506.1:c.157C>A (PKD1L1)
ENST00000433506.2:c.204C>A (PKD1L1)	ENSP00000393466.2:p.Ser68Arg
ENST00000436444.5:c.*1171-116237C>A (HUS1)	ENSP00000403844.1:n.*1171-116237C>A
ENST00000483616.1:n.649C>A (PKD1L1)
ENST00000648482.1:c.19C>A (PKD1L1)
ENST00000685709.1:c.7218C>A (PKD1L1)	ENSP00000509540.1:p.Ser2406Arg
ENST00000686775.1:c.1027C>A (PKD1L1)
ENST00000690269.1:c.7386C>A (PKD1L1)	ENSP00000510743.1:p.Ser2462Arg
XM_011515163.1:c.7218C>A (PKD1L1)	XP_011513465.1:p.Ser2406Arg
XM_011515534.1:c.-93-1414G>T (PKD1L1-AS1)	XP_011513836.1:n.-93-1414G>T
XM_017011798.2:c.7563C>A (PKD1L1)	XP_016867287.1:p.Ser2521Arg