Canonical Allele Identifier: CA6149550

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1156564
• ClinVar RCV Id: RCV001499289
• dbSNP Id: rs201973717
• ExAC: 11:68177432 G / A
• gnomAD v2: 11-68177432-G-A
• gnomAD v3: 11-68409964-G-A
• gnomAD v4: 11-68409964-G-A
• MyVariant Identifiers: chr11:g.68177432G>A (hg19) ; chr11:g.68409964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68409964G>A , CM000673.2:g.68409964G>A	GRCh38
NC_000011.9:g.68177432G>A , CM000673.1:g.68177432G>A	GRCh37
NC_000011.8:g.67934008G>A	NCBI36
NG_015835.1:g.102325G>A
NG_015835.2:g.102325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2142G>A MANE Select	ENSP00000294304.6:p.Glu714=
ENST00000294304.11:c.2142G>A	ENSP00000294304.6:p.Glu714=
ENST00000529993.5:c.*748G>A	ENSP00000436652.1:n.*748G>A
NM_001291902.1:c.399G>A	NP_001278831.1:p.Glu133=
NM_002335.3:c.2142G>A	NP_002326.2:p.Glu714=
XM_005273994.2:c.2142G>A	XP_005274051.1:p.Glu714=
XM_011545029.1:c.2169G>A	XP_011543331.1:p.Glu723=
XM_011545030.1:c.2169G>A	XP_011543332.1:p.Glu723=
XM_011545031.1:c.2169G>A	XP_011543333.1:p.Glu723=
XR_949925.1:n.2184G>A
XR_949926.1:n.2184G>A
XM_017017735.1:c.399G>A	XP_016873224.1:p.Glu133=
XR_001747874.1:n.2184G>A
XR_949925.2:n.2184G>A
XR_949926.2:n.2184G>A
NM_002335.4:c.2142G>A MANE Select	NP_002326.2:p.Glu714=
NM_001291902.2:c.399G>A	NP_001278831.1:p.Glu133=