Canonical Allele Identifier: CA381615747

Gene: LRP5

Linked Data

• dbSNP Id: rs1330911503
• gnomAD v2: 11-68174192-G-A
• gnomAD v3: 11-68406724-G-A
• gnomAD v4: 11-68406724-G-A
• COSMIC: COSM1704309
• MyVariant Identifiers: chr11:g.68174192G>A (hg19) ; chr11:g.68406724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406724G>A , CM000673.2:g.68406724G>A	GRCh38
NC_000011.9:g.68174192G>A , CM000673.1:g.68174192G>A	GRCh37
NC_000011.8:g.67930768G>A	NCBI36
NG_015835.1:g.99085G>A
NG_015835.2:g.99085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2002G>A MANE Select	ENSP00000294304.6:p.Ala668Thr
ENST00000294304.11:c.2002G>A	ENSP00000294304.6:p.Ala668Thr
ENST00000529993.5:c.*608G>A	ENSP00000436652.1:n.*608G>A
NM_001291902.1:c.259G>A	NP_001278831.1:p.Ala87Thr
NM_002335.3:c.2002G>A	NP_002326.2:p.Ala668Thr
XM_005273994.2:c.2002G>A	XP_005274051.1:p.Ala668Thr
XM_011545029.1:c.2029G>A	XP_011543331.1:p.Ala677Thr
XM_011545030.1:c.2029G>A	XP_011543332.1:p.Ala677Thr
XM_011545031.1:c.2029G>A	XP_011543333.1:p.Ala677Thr
XR_949925.1:n.2044G>A
XR_949926.1:n.2044G>A
XM_017017735.1:c.259G>A	XP_016873224.1:p.Ala87Thr
XR_001747874.1:n.2044G>A
XR_949925.2:n.2044G>A
XR_949926.2:n.2044G>A
NM_002335.4:c.2002G>A MANE Select	NP_002326.2:p.Ala668Thr
NM_001291902.2:c.259G>A	NP_001278831.1:p.Ala87Thr