Canonical Allele Identifier: CA6149688

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1720616
• ClinVar RCV Id: RCV002298334
• dbSNP Id: rs762646007
• ExAC: 11:68181223 A / G
• gnomAD v2: 11-68181223-A-G
• gnomAD v3: 11-68413755-A-G
• gnomAD v4: 11-68413755-A-G
• MyVariant Identifiers: chr11:g.68181223A>G (hg19) ; chr11:g.68413755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413755A>G , CM000673.2:g.68413755A>G	GRCh38
NC_000011.9:g.68181223A>G , CM000673.1:g.68181223A>G	GRCh37
NC_000011.8:g.67937799A>G	NCBI36
NG_015835.1:g.106116A>G
NG_015835.2:g.106116A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.2570A>G MANE Select	ENSP00000294304.6:p.Tyr857Cys
ENST00000294304.11:c.2570A>G	ENSP00000294304.6:p.Tyr857Cys
ENST00000529993.5:c.*1176A>G	ENSP00000436652.1:n.*1176A>G
NM_001291902.1:c.827A>G	NP_001278831.1:p.Tyr276Cys
NM_002335.3:c.2570A>G	NP_002326.2:p.Tyr857Cys
XM_005273994.2:c.2570A>G	XP_005274051.1:p.Tyr857Cys
XM_011545029.1:c.2597A>G	XP_011543331.1:p.Tyr866Cys
XM_011545030.1:c.2597A>G	XP_011543332.1:p.Tyr866Cys
XM_011545031.1:c.2597A>G	XP_011543333.1:p.Tyr866Cys
XR_949925.1:n.2612A>G
XR_949926.1:n.2612A>G
XM_017017735.1:c.827A>G	XP_016873224.1:p.Tyr276Cys
XM_017017736.1:c.110A>G	XP_016873225.1:p.Tyr37Cys
XR_001747874.1:n.2836A>G
XR_949925.2:n.2612A>G
XR_949926.2:n.2612A>G
NM_002335.4:c.2570A>G MANE Select	NP_002326.2:p.Tyr857Cys
NM_001291902.2:c.827A>G	NP_001278831.1:p.Tyr276Cys