Canonical Allele Identifier: CA4253291

Gene: PKD1L1 HUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47873962G>T , CM000669.2:g.47873962G>T	GRCh38
NC_000007.13:g.47913560G>T , CM000669.1:g.47913560G>T	GRCh37
NC_000007.12:g.47880085G>T	NCBI36
NG_052801.1:g.89661C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.3833C>A (PKD1L1) MANE Select	NP_612152.1:p.Pro1278Gln
ENST00000289672.7:c.3833C>A (PKD1L1) MANE Select	ENSP00000289672.2:p.Pro1278Gln
NM_138295.3:c.3833C>A (PKD1L1)	NP_612152.1:p.Pro1278Gln
NM_138295.4:c.3833C>A (PKD1L1)	NP_612152.1:p.Pro1278Gln
ENST00000289672.6:c.3833C>A (PKD1L1)	ENSP00000289672.2:p.Pro1278Gln
ENST00000436444.5:c.*1170+90224C>A (HUS1)	ENSP00000403844.1:n.*1170+90224C>A
ENST00000685709.1:c.3665C>A (PKD1L1)	ENSP00000509540.1:p.Pro1222Gln
ENST00000690269.1:c.3833C>A (PKD1L1)	ENSP00000510743.1:p.Pro1278Gln
XM_011515163.1:c.3665C>A (PKD1L1)	XP_011513465.1:p.Pro1222Gln
XM_017011798.2:c.4010C>A (PKD1L1)	XP_016867287.1:p.Pro1337Gln