Canonical Allele Identifier: CA381615746

Gene: LRP5

Linked Data

• dbSNP Id: rs1227841036
• gnomAD v2: 11-68174190-T-G
• gnomAD v3: 11-68406722-T-G
• gnomAD v4: 11-68406722-T-G
• MyVariant Identifiers: chr11:g.68174190T>G (hg19) ; chr11:g.68406722T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406722T>G , CM000673.2:g.68406722T>G	GRCh38
NC_000011.9:g.68174190T>G , CM000673.1:g.68174190T>G	GRCh37
NC_000011.8:g.67930766T>G	NCBI36
NG_015835.1:g.99083T>G
NG_015835.2:g.99083T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2000T>G MANE Select	ENSP00000294304.6:p.Val667Gly
ENST00000294304.11:c.2000T>G	ENSP00000294304.6:p.Val667Gly
ENST00000529993.5:c.*606T>G	ENSP00000436652.1:n.*606T>G
NM_001291902.1:c.257T>G	NP_001278831.1:p.Val86Gly
NM_002335.3:c.2000T>G	NP_002326.2:p.Val667Gly
XM_005273994.2:c.2000T>G	XP_005274051.1:p.Val667Gly
XM_011545029.1:c.2027T>G	XP_011543331.1:p.Val676Gly
XM_011545030.1:c.2027T>G	XP_011543332.1:p.Val676Gly
XM_011545031.1:c.2027T>G	XP_011543333.1:p.Val676Gly
XR_949925.1:n.2042T>G
XR_949926.1:n.2042T>G
XM_017017735.1:c.257T>G	XP_016873224.1:p.Val86Gly
XR_001747874.1:n.2042T>G
XR_949925.2:n.2042T>G
XR_949926.2:n.2042T>G
NM_002335.4:c.2000T>G MANE Select	NP_002326.2:p.Val667Gly
NM_001291902.2:c.257T>G	NP_001278831.1:p.Val86Gly