Canonical Allele Identifier: CA12506757

Gene: PKD1L1 HUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47859153C>T , CM000669.2:g.47859153C>T	GRCh38
NC_000007.13:g.47898751C>T , CM000669.1:g.47898751C>T	GRCh37
NC_000007.12:g.47865276C>T	NCBI36
NG_052801.1:g.104470G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.4150-268G>A (PKD1L1) MANE Select	NP_612152.1:n.4150-268G>A
ENST00000289672.7:c.4150-268G>A (PKD1L1) MANE Select	ENSP00000289672.2:n.4150-268G>A
NM_138295.3:c.4150-268G>A (PKD1L1)	NP_612152.1:n.4150-268G>A
NM_138295.4:c.4150-268G>A (PKD1L1)	NP_612152.1:n.4150-268G>A
ENST00000289672.6:c.4150-268G>A (PKD1L1)	ENSP00000289672.2:n.4150-268G>A
ENST00000436444.5:c.*1170+105033G>A (HUS1)	ENSP00000403844.1:n.*1170+105033G>A
ENST00000685709.1:c.3982-268G>A (PKD1L1)	ENSP00000509540.1:n.3982-268G>A
ENST00000690269.1:c.4150-268G>A (PKD1L1)	ENSP00000510743.1:n.4150-268G>A
XM_011515163.1:c.3982-268G>A (PKD1L1)	XP_011513465.1:n.3982-268G>A
XM_017011798.2:c.4327-268G>A (PKD1L1)	XP_016867287.1:n.4327-268G>A