Canonical Allele Identifier: CA224274616

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1442907
• ClinVar RCV Id: RCV001969974
• dbSNP Id: rs575222684
• gnomAD v2: 11-68181219-G-A
• gnomAD v3: 11-68413751-G-A
• gnomAD v4: 11-68413751-G-A
• MyVariant Identifiers: chr11:g.68181219G>A (hg19) ; chr11:g.68413751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413751G>A , CM000673.2:g.68413751G>A	GRCh38
NC_000011.9:g.68181219G>A , CM000673.1:g.68181219G>A	GRCh37
NC_000011.8:g.67937795G>A	NCBI36
NG_015835.1:g.106112G>A
NG_015835.2:g.106112G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.2566G>A MANE Select	ENSP00000294304.6:p.Asp856Asn
ENST00000294304.11:c.2566G>A	ENSP00000294304.6:p.Asp856Asn
ENST00000529993.5:c.*1172G>A	ENSP00000436652.1:n.*1172G>A
NM_001291902.1:c.823G>A	NP_001278831.1:p.Asp275Asn
NM_002335.3:c.2566G>A	NP_002326.2:p.Asp856Asn
XM_005273994.2:c.2566G>A	XP_005274051.1:p.Asp856Asn
XM_011545029.1:c.2593G>A	XP_011543331.1:p.Asp865Asn
XM_011545030.1:c.2593G>A	XP_011543332.1:p.Asp865Asn
XM_011545031.1:c.2593G>A	XP_011543333.1:p.Asp865Asn
XR_949925.1:n.2608G>A
XR_949926.1:n.2608G>A
XM_017017735.1:c.823G>A	XP_016873224.1:p.Asp275Asn
XM_017017736.1:c.106G>A	XP_016873225.1:p.Asp36Asn
XR_001747874.1:n.2832G>A
XR_949925.2:n.2608G>A
XR_949926.2:n.2608G>A
NM_002335.4:c.2566G>A MANE Select	NP_002326.2:p.Asp856Asn
NM_001291902.2:c.823G>A	NP_001278831.1:p.Asp275Asn