Canonical Allele Identifier: CA6150147

Gene: LRP5

Linked Data

• ClinVar Variation Id: 850313
• ClinVar RCV Id: RCV001054457 ; RCV002497419 ; RCV003396681
• dbSNP Id: rs149166384
• ExAC: 11:68201207 G / A
• gnomAD v2: 11-68201207-G-A
• gnomAD v3: 11-68433739-G-A
• gnomAD v4: 11-68433739-G-A
• MyVariant Identifiers: chr11:g.68201207G>A (hg19) ; chr11:g.68433739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433739G>A , CM000673.2:g.68433739G>A	GRCh38
NC_000011.9:g.68201207G>A , CM000673.1:g.68201207G>A	GRCh37
NC_000011.8:g.67957783G>A	NCBI36
NG_015835.1:g.126100G>A
NG_015835.2:g.126100G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3901G>A MANE Select	ENSP00000294304.6:p.Ala1301Thr
ENST00000294304.11:c.3901G>A	ENSP00000294304.6:p.Ala1301Thr
ENST00000529993.5:c.*2507G>A	ENSP00000436652.1:n.*2507G>A
NM_001291902.1:c.2158G>A	NP_001278831.1:p.Ala720Thr
NM_002335.3:c.3901G>A	NP_002326.2:p.Ala1301Thr
XM_005273994.2:c.3901G>A	XP_005274051.1:p.Ala1301Thr
XM_011545029.1:c.3928G>A	XP_011543331.1:p.Ala1310Thr
XM_011545030.1:c.3928G>A	XP_011543332.1:p.Ala1310Thr
XM_011545031.1:c.3928G>A	XP_011543333.1:p.Ala1310Thr
XR_949925.1:n.3943G>A
XR_949926.1:n.3943G>A
XM_017017735.1:c.2158G>A	XP_016873224.1:p.Ala720Thr
XM_017017736.1:c.1441G>A	XP_016873225.1:p.Ala481Thr
XR_949925.2:n.3943G>A
XR_949926.2:n.3943G>A
NM_002335.4:c.3901G>A MANE Select	NP_002326.2:p.Ala1301Thr
NM_001291902.2:c.2158G>A	NP_001278831.1:p.Ala720Thr