Canonical Allele Identifier: CA12538432

Gene: PKD1L1 HUS1 PKD1L1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47809270C>T , CM000669.2:g.47809270C>T	GRCh38
NC_000007.13:g.47848868C>T , CM000669.1:g.47848868C>T	GRCh37
NC_000007.12:g.47815393C>T	NCBI36
NG_052801.1:g.154353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433506.2:c.504+203G>A (PKD1L1)	ENSP00000393466.2:n.504+203G>A
ENST00000685709.1:c.7518+203G>A (PKD1L1)	ENSP00000509540.1:n.7518+203G>A
ENST00000686775.1:c.1327+203G>A (PKD1L1)
ENST00000690269.1:c.7686+203G>A (PKD1L1)	ENSP00000510743.1:n.7686+203G>A
ENST00000289672.7:c.7686+203G>A (PKD1L1) MANE Select	ENSP00000289672.2:n.7686+203G>A
ENST00000648482.1:c.319+203G>A (PKD1L1)
ENST00000289672.6:c.7686+203G>A (PKD1L1)	ENSP00000289672.2:n.7686+203G>A
ENST00000436444.5:c.*1171-113495G>A (HUS1)	ENSP00000403844.1:n.*1171-113495G>A
ENST00000483616.1:n.1152G>A (PKD1L1)
NM_001302627.1:c.-93-4156C>T (PKD1L1-AS1)	NP_001289556.1:n.-93-4156C>T
NM_025031.2:c.109-8756C>T (PKD1L1-AS1)	NP_079307.2:n.109-8756C>T
NM_138295.3:c.7686+203G>A (PKD1L1)	NP_612152.1:n.7686+203G>A
XM_011515534.1:c.-94+594C>T (PKD1L1-AS1)	XP_011513836.1:n.-94+594C>T
NM_138295.4:c.7686+203G>A (PKD1L1)	NP_612152.1:n.7686+203G>A
XM_017011798.2:c.7863+203G>A (PKD1L1)	XP_016867287.1:n.7863+203G>A
NM_138295.5:c.7686+203G>A (PKD1L1) MANE Select	NP_612152.1:n.7686+203G>A
NR_161268.1:n.154-8756C>T (PKD1L1-AS1)
NR_161269.1:n.154-4156C>T (PKD1L1-AS1)