Canonical Allele Identifier: CA381618046

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1021572
• ClinVar RCV Id: RCV001321361
• dbSNP Id: rs2098660836
• MyVariant Identifiers: chr11:g.68181157G>A (hg19) ; chr11:g.68413689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413689G>A , CM000673.2:g.68413689G>A	GRCh38
NC_000011.9:g.68181157G>A , CM000673.1:g.68181157G>A	GRCh37
NC_000011.8:g.67937733G>A	NCBI36
NG_015835.1:g.106050G>A
NG_015835.2:g.106050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2504G>A MANE Select	ENSP00000294304.6:p.Gly835Asp
ENST00000294304.11:c.2504G>A	ENSP00000294304.6:p.Gly835Asp
ENST00000529993.5:c.*1110G>A	ENSP00000436652.1:n.*1110G>A
NM_001291902.1:c.761G>A	NP_001278831.1:p.Gly254Asp
NM_002335.3:c.2504G>A	NP_002326.2:p.Gly835Asp
XM_005273994.2:c.2504G>A	XP_005274051.1:p.Gly835Asp
XM_011545029.1:c.2531G>A	XP_011543331.1:p.Gly844Asp
XM_011545030.1:c.2531G>A	XP_011543332.1:p.Gly844Asp
XM_011545031.1:c.2531G>A	XP_011543333.1:p.Gly844Asp
XR_949925.1:n.2546G>A
XR_949926.1:n.2546G>A
XM_017017735.1:c.761G>A	XP_016873224.1:p.Gly254Asp
XM_017017736.1:c.44G>A	XP_016873225.1:p.Gly15Asp
XR_001747874.1:n.2770G>A
XR_949925.2:n.2546G>A
XR_949926.2:n.2546G>A
NM_002335.4:c.2504G>A MANE Select	NP_002326.2:p.Gly835Asp
NM_001291902.2:c.761G>A	NP_001278831.1:p.Gly254Asp