Canonical Allele Identifier: CA381614443

Gene: LRP5

Linked Data

• ClinVar Variation Id: 999542
• ClinVar RCV Id: RCV001295555
• dbSNP Id: rs2098653910
• MyVariant Identifiers: chr11:g.68171081A>G (hg19) ; chr11:g.68403613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403613A>G , CM000673.2:g.68403613A>G	GRCh38
NC_000011.9:g.68171081A>G , CM000673.1:g.68171081A>G	GRCh37
NC_000011.8:g.67927657A>G	NCBI36
NG_015835.1:g.95974A>G
NG_015835.2:g.95974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1715A>G MANE Select	ENSP00000294304.6:p.His572Arg
ENST00000294304.11:c.1715A>G	ENSP00000294304.6:p.His572Arg
ENST00000529993.5:c.*127A>G	ENSP00000436652.1:n.*127A>G
NM_001291902.1:c.-223A>G	NP_001278831.1:n.-223A>G
NM_002335.3:c.1715A>G	NP_002326.2:p.His572Arg
XM_005273994.2:c.1715A>G	XP_005274051.1:p.His572Arg
XM_011545029.1:c.1742A>G	XP_011543331.1:p.His581Arg
XM_011545030.1:c.1742A>G	XP_011543332.1:p.His581Arg
XM_011545031.1:c.1742A>G	XP_011543333.1:p.His581Arg
XR_949925.1:n.1757A>G
XR_949926.1:n.1757A>G
XR_001747874.1:n.1757A>G
XR_949925.2:n.1757A>G
XR_949926.2:n.1757A>G
NM_002335.4:c.1715A>G MANE Select	NP_002326.2:p.His572Arg
NM_001291902.2:c.-223A>G	NP_001278831.1:n.-223A>G