Canonical Allele Identifier: CA367471549

Gene: PKD1L1 HUS1 PKD1L1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47812014T>G , CM000669.2:g.47812014T>G	GRCh38
NC_000007.13:g.47851612T>G , CM000669.1:g.47851612T>G	GRCh37
NC_000007.12:g.47818137T>G	NCBI36
NG_052801.1:g.151609A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.7384A>C (PKD1L1) MANE Select	NP_612152.1:p.Ser2462Arg
ENST00000289672.7:c.7384A>C (PKD1L1) MANE Select	ENSP00000289672.2:p.Ser2462Arg
NM_001302627.1:c.-93-1412T>G (PKD1L1-AS1)	NP_001289556.1:n.-93-1412T>G
NM_025031.2:c.109-6012T>G (PKD1L1-AS1)	NP_079307.2:n.109-6012T>G
NM_138295.3:c.7384A>C (PKD1L1)	NP_612152.1:p.Ser2462Arg
NM_138295.4:c.7384A>C (PKD1L1)	NP_612152.1:p.Ser2462Arg
NR_161268.1:n.154-6012T>G (PKD1L1-AS1)
NR_161269.1:n.154-1412T>G (PKD1L1-AS1)
ENST00000289672.6:c.7384A>C (PKD1L1)	ENSP00000289672.2:p.Ser2462Arg
ENST00000433506.1:c.155A>C (PKD1L1)
ENST00000433506.2:c.202A>C (PKD1L1)	ENSP00000393466.2:p.Ser68Arg
ENST00000436444.5:c.*1171-116239A>C (HUS1)	ENSP00000403844.1:n.*1171-116239A>C
ENST00000483616.1:n.647A>C (PKD1L1)
ENST00000648482.1:c.17A>C (PKD1L1)
ENST00000685709.1:c.7216A>C (PKD1L1)	ENSP00000509540.1:p.Ser2406Arg
ENST00000686775.1:c.1025A>C (PKD1L1)
ENST00000690269.1:c.7384A>C (PKD1L1)	ENSP00000510743.1:p.Ser2462Arg
XM_011515163.1:c.7216A>C (PKD1L1)	XP_011513465.1:p.Ser2406Arg
XM_011515534.1:c.-93-1412T>G (PKD1L1-AS1)	XP_011513836.1:n.-93-1412T>G
XM_017011798.2:c.7561A>C (PKD1L1)	XP_016867287.1:p.Ser2521Arg