Canonical Allele Identifier: CA6150278

Gene: LRP5

Linked Data

• ClinVar Variation Id: 286556
• ClinVar RCV Id: RCV000355463 ; RCV003909986
• dbSNP Id: rs113315676
• ExAC: 11:68205997 G / A
• gnomAD v2: 11-68205997-G-A
• gnomAD v3: 11-68438529-G-A
• gnomAD v4: 11-68438529-G-A
• MyVariant Identifiers: chr11:g.68205997G>A (hg19) ; chr11:g.68438529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68438529G>A , CM000673.2:g.68438529G>A	GRCh38
NC_000011.9:g.68205997G>A , CM000673.1:g.68205997G>A	GRCh37
NC_000011.8:g.67962573G>A	NCBI36
NG_015835.1:g.130890G>A
NG_015835.2:g.130890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4195G>A MANE Select	ENSP00000294304.6:p.Val1399Ile
ENST00000294304.11:c.4195G>A	ENSP00000294304.6:p.Val1399Ile
ENST00000529993.5:c.*2801G>A	ENSP00000436652.1:n.*2801G>A
NM_001291902.1:c.2452G>A	NP_001278831.1:p.Val818Ile
NM_002335.3:c.4195G>A	NP_002326.2:p.Val1399Ile
XM_005273994.2:c.4195G>A	XP_005274051.1:p.Val1399Ile
XM_011545029.1:c.4222G>A	XP_011543331.1:p.Val1408Ile
XM_011545030.1:c.4222G>A	XP_011543332.1:p.Val1408Ile
XM_011545031.1:c.4222G>A	XP_011543333.1:p.Val1408Ile
XR_949925.1:n.4237G>A
XR_949926.1:n.4237G>A
XM_017017735.1:c.2452G>A	XP_016873224.1:p.Val818Ile
XM_017017736.1:c.1735G>A	XP_016873225.1:p.Val579Ile
XR_949925.2:n.4237G>A
XR_949926.2:n.4237G>A
NM_002335.4:c.4195G>A MANE Select	NP_002326.2:p.Val1399Ile
NM_001291902.2:c.2452G>A	NP_001278831.1:p.Val818Ile