Canonical Allele Identifier: CA224254814

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68438662C>A , CM000673.2:g.68438662C>A	GRCh38
NC_000011.9:g.68206130C>A , CM000673.1:g.68206130C>A	GRCh37
NC_000011.8:g.67962706C>A	NCBI36
NG_015835.1:g.131023C>A
NG_015835.2:g.131023C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.4328C>A MANE Select	NP_002326.2:p.Ser1443Tyr
ENST00000294304.12:c.4328C>A MANE Select	ENSP00000294304.6:p.Ser1443Tyr
NM_001291902.1:c.2585C>A	NP_001278831.1:p.Ser862Tyr
NM_001291902.2:c.2585C>A	NP_001278831.1:p.Ser862Tyr
NM_002335.3:c.4328C>A	NP_002326.2:p.Ser1443Tyr
ENST00000294304.11:c.4328C>A	ENSP00000294304.6:p.Ser1443Tyr
ENST00000529993.5:c.*2934C>A	ENSP00000436652.1:n.*2934C>A
ENST00000533695.1:n.70C>A
XM_005273994.2:c.4328C>A	XP_005274051.1:p.Ser1443Tyr
XM_011545029.1:c.4355C>A	XP_011543331.1:p.Ser1452Tyr
XM_011545030.1:c.4355C>A	XP_011543332.1:p.Ser1452Tyr
XM_011545031.1:c.4355C>A	XP_011543333.1:p.Ser1452Tyr
XM_017017735.1:c.2585C>A	XP_016873224.1:p.Ser862Tyr
XM_017017736.1:c.1868C>A	XP_016873225.1:p.Ser623Tyr
XR_949925.1:n.4370C>A
XR_949925.2:n.4370C>A
XR_949926.1:n.4370C>A
XR_949926.2:n.4370C>A