Canonical Allele Identifier: CA381610287

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68347964T>A , CM000673.2:g.68347964T>A	GRCh38
NC_000011.9:g.68115432T>A , CM000673.1:g.68115432T>A	GRCh37
NC_000011.8:g.67872008T>A	NCBI36
NG_015835.1:g.40325T>A
NG_015835.2:g.40325T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.209T>A MANE Select	NP_002326.2:p.Phe70Tyr
ENST00000294304.12:c.209T>A MANE Select	ENSP00000294304.6:p.Phe70Tyr
NM_001291902.1:c.-1557T>A	NP_001278831.1:n.-1557T>A
NM_001291902.2:c.-1557T>A	NP_001278831.1:n.-1557T>A
NM_002335.3:c.209T>A	NP_002326.2:p.Phe70Tyr
ENST00000294304.11:c.209T>A	ENSP00000294304.6:p.Phe70Tyr
ENST00000529993.5:c.209T>A	ENSP00000436652.1:p.Phe70Tyr
XM_005273994.2:c.209T>A	XP_005274051.1:p.Phe70Tyr
XM_011545029.1:c.236T>A	XP_011543331.1:p.Phe79Tyr
XM_011545030.1:c.236T>A	XP_011543332.1:p.Phe79Tyr
XM_011545031.1:c.236T>A	XP_011543333.1:p.Phe79Tyr
XR_001747874.1:n.251T>A
XR_949925.1:n.251T>A
XR_949925.2:n.251T>A
XR_949926.1:n.251T>A
XR_949926.2:n.251T>A