Canonical Allele Identifier: CA210911

Gene: LRP5

Linked Data

• ClinVar Variation Id: 162393
• ClinVar RCV Id: RCV000149788 ; RCV000584765
• dbSNP Id: rs724159827
• gnomAD v2: 11-68216341-G-A
• gnomAD v3: 11-68448873-G-A
• gnomAD v4: 11-68448873-G-A
• MyVariant Identifiers: chr11:g.68216341G>A (hg19) ; chr11:g.68448873G>A (hg38)
• PubMed: PMID:24706814

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448873G>A , CM000673.2:g.68448873G>A	GRCh38
NC_000011.9:g.68216341G>A , CM000673.1:g.68216341G>A	GRCh37
NC_000011.8:g.67972917G>A	NCBI36
NG_015835.1:g.141234G>A
NG_015835.2:g.141234G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4651G>A MANE Select	ENSP00000294304.6:p.Asp1551Asn
ENST00000294304.11:c.4651G>A	ENSP00000294304.6:p.Asp1551Asn
ENST00000529481.1:n.242G>A
ENST00000529702.1:c.321G>A
ENST00000529993.5:c.*3257G>A	ENSP00000436652.1:n.*3257G>A
NM_001291902.1:c.2908G>A	NP_001278831.1:p.Asp970Asn
NM_002335.3:c.4651G>A	NP_002326.2:p.Asp1551Asn
XM_005273994.2:c.4765G>A	XP_005274051.1:p.Asp1589Asn
XM_011545029.1:c.4792G>A	XP_011543331.1:p.Asp1598Asn
XM_011545030.1:c.4678G>A	XP_011543332.1:p.Asp1560Asn
XM_011545031.1:c.*5G>A	XP_011543333.1:n.*5G>A
XR_949925.1:n.5038G>A
XR_949926.1:n.5054G>A
XM_017017735.1:c.3022G>A	XP_016873224.1:p.Asp1008Asn
XM_017017736.1:c.2305G>A	XP_016873225.1:p.Asp769Asn
XR_949925.2:n.5038G>A
XR_949926.2:n.5054G>A
NM_002335.4:c.4651G>A MANE Select	NP_002326.2:p.Asp1551Asn
NM_001291902.2:c.2908G>A	NP_001278831.1:p.Asp970Asn