Canonical Allele Identifier: CA4252269

Gene: PKD1L1 HUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47821092G>A , CM000669.2:g.47821092G>A	GRCh38
NC_000007.13:g.47860690G>A , CM000669.1:g.47860690G>A	GRCh37
NC_000007.12:g.47827215G>A	NCBI36
NG_052801.1:g.142531C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.6949C>T (PKD1L1) MANE Select	NP_612152.1:p.Arg2317Trp
ENST00000289672.7:c.6949C>T (PKD1L1) MANE Select	ENSP00000289672.2:p.Arg2317Trp
NM_138295.3:c.6949C>T (PKD1L1)	NP_612152.1:p.Arg2317Trp
NM_138295.4:c.6949C>T (PKD1L1)	NP_612152.1:p.Arg2317Trp
ENST00000289672.6:c.6949C>T (PKD1L1)	ENSP00000289672.2:p.Arg2317Trp
ENST00000436444.5:c.*1171-125317C>T (HUS1)	ENSP00000403844.1:n.*1171-125317C>T
ENST00000483616.1:n.212C>T (PKD1L1)
ENST00000685709.1:c.6781C>T (PKD1L1)	ENSP00000509540.1:p.Arg2261Trp
ENST00000686775.1:c.590C>T (PKD1L1)
ENST00000690269.1:c.6949C>T (PKD1L1)	ENSP00000510743.1:p.Arg2317Trp
XM_011515163.1:c.6781C>T (PKD1L1)	XP_011513465.1:p.Arg2261Trp
XM_017011798.2:c.7126C>T (PKD1L1)	XP_016867287.1:p.Arg2376Trp