Canonical Allele Identifier: CA381615260

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2011022
• ClinVar RCV Id: RCV002829185
• MyVariant Identifiers: chr11:g.68173998A>G (hg19) ; chr11:g.68406530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406530A>G , CM000673.2:g.68406530A>G	GRCh38
NC_000011.9:g.68173998A>G , CM000673.1:g.68173998A>G	GRCh37
NC_000011.8:g.67930574A>G	NCBI36
NG_015835.1:g.98891A>G
NG_015835.2:g.98891A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1808A>G MANE Select	ENSP00000294304.6:p.Asn603Ser
ENST00000294304.11:c.1808A>G	ENSP00000294304.6:p.Asn603Ser
ENST00000528890.1:n.447A>G
ENST00000529993.5:c.*414A>G	ENSP00000436652.1:n.*414A>G
NM_001291902.1:c.65A>G	NP_001278831.1:p.Asn22Ser
NM_002335.3:c.1808A>G	NP_002326.2:p.Asn603Ser
XM_005273994.2:c.1808A>G	XP_005274051.1:p.Asn603Ser
XM_011545029.1:c.1835A>G	XP_011543331.1:p.Asn612Ser
XM_011545030.1:c.1835A>G	XP_011543332.1:p.Asn612Ser
XM_011545031.1:c.1835A>G	XP_011543333.1:p.Asn612Ser
XR_949925.1:n.1850A>G
XR_949926.1:n.1850A>G
XM_017017735.1:c.65A>G	XP_016873224.1:p.Asn22Ser
XR_001747874.1:n.1850A>G
XR_949925.2:n.1850A>G
XR_949926.2:n.1850A>G
NM_002335.4:c.1808A>G MANE Select	NP_002326.2:p.Asn603Ser
NM_001291902.2:c.65A>G	NP_001278831.1:p.Asn22Ser