Canonical Allele Identifier: CA6150135

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2152119
• ClinVar RCV Id: RCV003079126
• dbSNP Id: rs762014835
• ExAC: 11:68201169 A / G
• gnomAD v2: 11-68201169-A-G
• gnomAD v3: 11-68433701-A-G
• gnomAD v4: 11-68433701-A-G
• MyVariant Identifiers: chr11:g.68201169A>G (hg19) ; chr11:g.68433701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433701A>G , CM000673.2:g.68433701A>G	GRCh38
NC_000011.9:g.68201169A>G , CM000673.1:g.68201169A>G	GRCh37
NC_000011.8:g.67957745A>G	NCBI36
NG_015835.1:g.126062A>G
NG_015835.2:g.126062A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3863A>G MANE Select	ENSP00000294304.6:p.Asp1288Gly
ENST00000294304.11:c.3863A>G	ENSP00000294304.6:p.Asp1288Gly
ENST00000529993.5:c.*2469A>G	ENSP00000436652.1:n.*2469A>G
NM_001291902.1:c.2120A>G	NP_001278831.1:p.Asp707Gly
NM_002335.3:c.3863A>G	NP_002326.2:p.Asp1288Gly
XM_005273994.2:c.3863A>G	XP_005274051.1:p.Asp1288Gly
XM_011545029.1:c.3890A>G	XP_011543331.1:p.Asp1297Gly
XM_011545030.1:c.3890A>G	XP_011543332.1:p.Asp1297Gly
XM_011545031.1:c.3890A>G	XP_011543333.1:p.Asp1297Gly
XR_949925.1:n.3905A>G
XR_949926.1:n.3905A>G
XM_017017735.1:c.2120A>G	XP_016873224.1:p.Asp707Gly
XM_017017736.1:c.1403A>G	XP_016873225.1:p.Asp468Gly
XR_949925.2:n.3905A>G
XR_949926.2:n.3905A>G
NM_002335.4:c.3863A>G MANE Select	NP_002326.2:p.Asp1288Gly
NM_001291902.2:c.2120A>G	NP_001278831.1:p.Asp707Gly