Canonical Allele Identifier: CA201379

Gene: LRP5

Linked Data

• ClinVar Variation Id: 194836
• ClinVar RCV Id: RCV000175298 ; RCV000956972 ; RCV002277353 ; RCV002277354
• dbSNP Id: rs116068042
• ExAC: 11:68201316 T / A
• gnomAD v2: 11-68201316-T-A
• gnomAD v3: 11-68433848-T-A
• gnomAD v4: 11-68433848-T-A
• MyVariant Identifiers: chr11:g.68201316T>A (hg19) ; chr11:g.68201316_68201317delinsAC (hg19) ; chr11:g.68433848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433848T>A , CM000673.2:g.68433848T>A	GRCh38
NC_000011.9:g.68201316T>A , CM000673.1:g.68201316T>A	GRCh37
NC_000011.8:g.67957892T>A	NCBI36
NG_015835.1:g.126209T>A
NG_015835.2:g.126209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4000+10T>A MANE Select	ENSP00000294304.6:n.4000+10T>A
ENST00000294304.11:c.4000+10T>A	ENSP00000294304.6:n.4000+10T>A
ENST00000529993.5:c.*2606+10T>A	ENSP00000436652.1:n.*2606+10T>A
NM_001291902.1:c.2257+10T>A	NP_001278831.1:n.2257+10T>A
NM_002335.3:c.4000+10T>A	NP_002326.2:n.4000+10T>A
XM_005273994.2:c.4000+10T>A	XP_005274051.1:n.4000+10T>A
XM_011545029.1:c.4027+10T>A	XP_011543331.1:n.4027+10T>A
XM_011545030.1:c.4027+10T>A	XP_011543332.1:n.4027+10T>A
XM_011545031.1:c.4027+10T>A	XP_011543333.1:n.4027+10T>A
XR_949925.1:n.4042+10T>A
XR_949926.1:n.4042+10T>A
XM_017017735.1:c.2257+10T>A	XP_016873224.1:n.2257+10T>A
XM_017017736.1:c.1540+10T>A	XP_016873225.1:n.1540+10T>A
XR_949925.2:n.4042+10T>A
XR_949926.2:n.4042+10T>A
NM_002335.4:c.4000+10T>A MANE Select	NP_002326.2:n.4000+10T>A
NM_001291902.2:c.2257+10T>A	NP_001278831.1:n.2257+10T>A