Canonical Allele Identifier: CA2573147543

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1582428
• ClinVar RCV Id: RCV002111187
• dbSNP Id: rs1156577431

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433851C>G , CM000673.2:g.68433851C>G	GRCh38
NC_000011.9:g.68201319C>G , CM000673.1:g.68201319C>G	GRCh37
NC_000011.8:g.67957895C>G	NCBI36
NG_015835.1:g.126212C>G
NG_015835.2:g.126212C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4000+13C>G MANE Select	ENSP00000294304.6:n.4000+13C>G
ENST00000294304.11:c.4000+13C>G	ENSP00000294304.6:n.4000+13C>G
ENST00000529993.5:c.*2606+13C>G	ENSP00000436652.1:n.*2606+13C>G
NM_001291902.1:c.2257+13C>G	NP_001278831.1:n.2257+13C>G
NM_002335.3:c.4000+13C>G	NP_002326.2:n.4000+13C>G
XM_005273994.2:c.4000+13C>G	XP_005274051.1:n.4000+13C>G
XM_011545029.1:c.4027+13C>G	XP_011543331.1:n.4027+13C>G
XM_011545030.1:c.4027+13C>G	XP_011543332.1:n.4027+13C>G
XM_011545031.1:c.4027+13C>G	XP_011543333.1:n.4027+13C>G
XR_949925.1:n.4042+13C>G
XR_949926.1:n.4042+13C>G
XM_017017735.1:c.2257+13C>G	XP_016873224.1:n.2257+13C>G
XM_017017736.1:c.1540+13C>G	XP_016873225.1:n.1540+13C>G
XR_949925.2:n.4042+13C>G
XR_949926.2:n.4042+13C>G
NM_002335.4:c.4000+13C>G MANE Select	NP_002326.2:n.4000+13C>G
NM_001291902.2:c.2257+13C>G	NP_001278831.1:n.2257+13C>G