Canonical Allele Identifier: CA12538428

Gene: PKD1L1 HUS1 PKD1L1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47808081G>A , CM000669.2:g.47808081G>A	GRCh38
NC_000007.13:g.47847679G>A , CM000669.1:g.47847679G>A	GRCh37
NC_000007.12:g.47814204G>A	NCBI36
NG_052801.1:g.155542C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.7827+166C>T (PKD1L1) MANE Select	NP_612152.1:n.7827+166C>T
ENST00000289672.7:c.7827+166C>T (PKD1L1) MANE Select	ENSP00000289672.2:n.7827+166C>T
NM_001302627.1:c.-93-5345G>A (PKD1L1-AS1)	NP_001289556.1:n.-93-5345G>A
NM_025031.2:c.109-9945G>A (PKD1L1-AS1)	NP_079307.2:n.109-9945G>A
NM_138295.3:c.7827+166C>T (PKD1L1)	NP_612152.1:n.7827+166C>T
NM_138295.4:c.7827+166C>T (PKD1L1)	NP_612152.1:n.7827+166C>T
NR_161268.1:n.154-9945G>A (PKD1L1-AS1)
NR_161269.1:n.154-5345G>A (PKD1L1-AS1)
ENST00000289672.6:c.7827+166C>T (PKD1L1)	ENSP00000289672.2:n.7827+166C>T
ENST00000433506.2:c.504+1392C>T (PKD1L1)	ENSP00000393466.2:n.504+1392C>T
ENST00000436444.5:c.*1171-112306C>T (HUS1)	ENSP00000403844.1:n.*1171-112306C>T
ENST00000648482.1:c.460+166C>T (PKD1L1)
ENST00000685709.1:c.7659+166C>T (PKD1L1)	ENSP00000509540.1:n.7659+166C>T
ENST00000686775.1:c.1468+166C>T (PKD1L1)
ENST00000690269.1:c.7827+166C>T (PKD1L1)	ENSP00000510743.1:n.7827+166C>T
XM_017011798.2:c.8004+166C>T (PKD1L1)	XP_016867287.1:n.8004+166C>T