Canonical Allele Identifier: CA210921

Gene: LRP5

Linked Data

• ClinVar Variation Id: 183255
• ClinVar RCV Id: RCV000162089 ; RCV000174732 ; RCV000765011 ; RCV000767146 ; RCV001260288 ; RCV001844811 ; RCV002277317
• dbSNP Id: rs61889560
• ExAC: 11:68191036 G / A
• gnomAD v2: 11-68191036-G-A
• gnomAD v3: 11-68423568-G-A
• gnomAD v4: 11-68423568-G-A
• MyVariant Identifiers: chr11:g.68191036G>A (hg19) ; chr11:g.68423568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68423568G>A , CM000673.2:g.68423568G>A	GRCh38
NC_000011.9:g.68191036G>A , CM000673.1:g.68191036G>A	GRCh37
NC_000011.8:g.67947612G>A	NCBI36
NG_015835.1:g.115929G>A
NG_015835.2:g.115929G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3107G>A MANE Select	ENSP00000294304.6:p.Arg1036Gln
ENST00000294304.11:c.3107G>A	ENSP00000294304.6:p.Arg1036Gln
ENST00000529993.5:c.*1713G>A	ENSP00000436652.1:n.*1713G>A
NM_001291902.1:c.1364G>A	NP_001278831.1:p.Arg455Gln
NM_002335.3:c.3107G>A	NP_002326.2:p.Arg1036Gln
XM_005273994.2:c.3107G>A	XP_005274051.1:p.Arg1036Gln
XM_011545029.1:c.3134G>A	XP_011543331.1:p.Arg1045Gln
XM_011545030.1:c.3134G>A	XP_011543332.1:p.Arg1045Gln
XM_011545031.1:c.3134G>A	XP_011543333.1:p.Arg1045Gln
XR_949925.1:n.3149G>A
XR_949926.1:n.3149G>A
XM_017017735.1:c.1364G>A	XP_016873224.1:p.Arg455Gln
XM_017017736.1:c.647G>A	XP_016873225.1:p.Arg216Gln
XR_949925.2:n.3149G>A
XR_949926.2:n.3149G>A
NM_002335.4:c.3107G>A MANE Select	NP_002326.2:p.Arg1036Gln
NM_001291902.2:c.1364G>A	NP_001278831.1:p.Arg455Gln