Canonical Allele Identifier: CA12561754

Gene: PKD1L1 HUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.47834099T>C , CM000669.2:g.47834099T>C	GRCh38
NC_000007.13:g.47873697T>C , CM000669.1:g.47873697T>C	GRCh37
NC_000007.12:g.47840222T>C	NCBI36
NG_052801.1:g.129524A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138295.5:c.6174+240A>G (PKD1L1) MANE Select	NP_612152.1:n.6174+240A>G
ENST00000289672.7:c.6174+240A>G (PKD1L1) MANE Select	ENSP00000289672.2:n.6174+240A>G
NM_138295.3:c.6174+240A>G (PKD1L1)	NP_612152.1:n.6174+240A>G
NM_138295.4:c.6174+240A>G (PKD1L1)	NP_612152.1:n.6174+240A>G
ENST00000289672.6:c.6174+240A>G (PKD1L1)	ENSP00000289672.2:n.6174+240A>G
ENST00000436444.5:c.*1170+130087A>G (HUS1)	ENSP00000403844.1:n.*1170+130087A>G
ENST00000685709.1:c.6006+240A>G (PKD1L1)	ENSP00000509540.1:n.6006+240A>G
ENST00000686775.1:c.376+240A>G (PKD1L1)
ENST00000690269.1:c.6174+240A>G (PKD1L1)	ENSP00000510743.1:n.6174+240A>G
XM_011515163.1:c.6006+240A>G (PKD1L1)	XP_011513465.1:n.6006+240A>G
XM_017011798.2:c.6351+240A>G (PKD1L1)	XP_016867287.1:n.6351+240A>G