Canonical Allele Identifier: CA224251093

Gene: LRP5

Linked Data

• ClinVar Variation Id: 936524
• ClinVar RCV Id: RCV001205340 ; RCV002484112
• dbSNP Id: rs968164869
• gnomAD v2: 11-68201261-G-A
• gnomAD v4: 11-68433793-G-A
• MyVariant Identifiers: chr11:g.68201261G>A (hg19) ; chr11:g.68433793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433793G>A , CM000673.2:g.68433793G>A	GRCh38
NC_000011.9:g.68201261G>A , CM000673.1:g.68201261G>A	GRCh37
NC_000011.8:g.67957837G>A	NCBI36
NG_015835.1:g.126154G>A
NG_015835.2:g.126154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3955G>A MANE Select	ENSP00000294304.6:p.Gly1319Ser
ENST00000294304.11:c.3955G>A	ENSP00000294304.6:p.Gly1319Ser
ENST00000529993.5:c.*2561G>A	ENSP00000436652.1:n.*2561G>A
NM_001291902.1:c.2212G>A	NP_001278831.1:p.Gly738Ser
NM_002335.3:c.3955G>A	NP_002326.2:p.Gly1319Ser
XM_005273994.2:c.3955G>A	XP_005274051.1:p.Gly1319Ser
XM_011545029.1:c.3982G>A	XP_011543331.1:p.Gly1328Ser
XM_011545030.1:c.3982G>A	XP_011543332.1:p.Gly1328Ser
XM_011545031.1:c.3982G>A	XP_011543333.1:p.Gly1328Ser
XR_949925.1:n.3997G>A
XR_949926.1:n.3997G>A
XM_017017735.1:c.2212G>A	XP_016873224.1:p.Gly738Ser
XM_017017736.1:c.1495G>A	XP_016873225.1:p.Gly499Ser
XR_949925.2:n.3997G>A
XR_949926.2:n.3997G>A
NM_002335.4:c.3955G>A MANE Select	NP_002326.2:p.Gly1319Ser
NM_001291902.2:c.2212G>A	NP_001278831.1:p.Gly738Ser