Canonical Allele Identifier: CA381612127

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1054583
• ClinVar RCV Id: RCV001363108
• dbSNP Id: rs1489569671
• gnomAD v2: 11-68153814-G-A
• gnomAD v4: 11-68386346-G-A
• MyVariant Identifiers: chr11:g.68153814G>A (hg19) ; chr11:g.68386346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68386346G>A , CM000673.2:g.68386346G>A	GRCh38
NC_000011.9:g.68153814G>A , CM000673.1:g.68153814G>A	GRCh37
NC_000011.8:g.67910390G>A	NCBI36
NG_015835.1:g.78707G>A
NG_015835.2:g.78707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1046G>A MANE Select	ENSP00000294304.6:p.Arg349Gln
ENST00000294304.11:c.1046G>A	ENSP00000294304.6:p.Arg349Gln
ENST00000529993.5:c.1046G>A	ENSP00000436652.1:p.Arg349Gln
NM_001291902.1:c.-720G>A	NP_001278831.1:n.-720G>A
NM_002335.3:c.1046G>A	NP_002326.2:p.Arg349Gln
XM_005273994.2:c.1046G>A	XP_005274051.1:p.Arg349Gln
XM_011545029.1:c.1073G>A	XP_011543331.1:p.Arg358Gln
XM_011545030.1:c.1073G>A	XP_011543332.1:p.Arg358Gln
XM_011545031.1:c.1073G>A	XP_011543333.1:p.Arg358Gln
XR_949925.1:n.1088G>A
XR_949926.1:n.1088G>A
XR_001747874.1:n.1088G>A
XR_949925.2:n.1088G>A
XR_949926.2:n.1088G>A
NM_002335.4:c.1046G>A MANE Select	NP_002326.2:p.Arg349Gln
NM_001291902.2:c.-720G>A	NP_001278831.1:n.-720G>A