Canonical Allele Identifier: CA381614456

Gene: LRP5

Linked Data

• dbSNP Id: rs1439971977
• gnomAD v3: 11-68403616-A-G
• gnomAD v4: 11-68403616-A-G
• MyVariant Identifiers: chr11:g.68171084A>G (hg19) ; chr11:g.68403616A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403616A>G , CM000673.2:g.68403616A>G	GRCh38
NC_000011.9:g.68171084A>G , CM000673.1:g.68171084A>G	GRCh37
NC_000011.8:g.67927660A>G	NCBI36
NG_015835.1:g.95977A>G
NG_015835.2:g.95977A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.1718A>G MANE Select	ENSP00000294304.6:p.Lys573Arg
ENST00000294304.11:c.1718A>G	ENSP00000294304.6:p.Lys573Arg
ENST00000529993.5:c.*130A>G	ENSP00000436652.1:n.*130A>G
NM_001291902.1:c.-220A>G	NP_001278831.1:n.-220A>G
NM_002335.3:c.1718A>G	NP_002326.2:p.Lys573Arg
XM_005273994.2:c.1718A>G	XP_005274051.1:p.Lys573Arg
XM_011545029.1:c.1745A>G	XP_011543331.1:p.Lys582Arg
XM_011545030.1:c.1745A>G	XP_011543332.1:p.Lys582Arg
XM_011545031.1:c.1745A>G	XP_011543333.1:p.Lys582Arg
XR_949925.1:n.1760A>G
XR_949926.1:n.1760A>G
XR_001747874.1:n.1760A>G
XR_949925.2:n.1760A>G
XR_949926.2:n.1760A>G
NM_002335.4:c.1718A>G MANE Select	NP_002326.2:p.Lys573Arg
NM_001291902.2:c.-220A>G	NP_001278831.1:n.-220A>G