Canonical Allele Identifier: CA381616739

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1974383
• ClinVar RCV Id: RCV002765597
• MyVariant Identifiers: chr11:g.68177607G>C (hg19) ; chr11:g.68410139G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410139G>C , CM000673.2:g.68410139G>C	GRCh38
NC_000011.9:g.68177607G>C , CM000673.1:g.68177607G>C	GRCh37
NC_000011.8:g.67934183G>C	NCBI36
NG_015835.1:g.102500G>C
NG_015835.2:g.102500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2317G>C MANE Select	ENSP00000294304.6:p.Gly773Arg
ENST00000294304.11:c.2317G>C	ENSP00000294304.6:p.Gly773Arg
ENST00000528714.1:n.111G>C
ENST00000529993.5:c.*923G>C	ENSP00000436652.1:n.*923G>C
NM_001291902.1:c.574G>C	NP_001278831.1:p.Gly192Arg
NM_002335.3:c.2317G>C	NP_002326.2:p.Gly773Arg
XM_005273994.2:c.2317G>C	XP_005274051.1:p.Gly773Arg
XM_011545029.1:c.2344G>C	XP_011543331.1:p.Gly782Arg
XM_011545030.1:c.2344G>C	XP_011543332.1:p.Gly782Arg
XM_011545031.1:c.2344G>C	XP_011543333.1:p.Gly782Arg
XR_949925.1:n.2359G>C
XR_949926.1:n.2359G>C
XM_017017735.1:c.574G>C	XP_016873224.1:p.Gly192Arg
XR_001747874.1:n.2359G>C
XR_949925.2:n.2359G>C
XR_949926.2:n.2359G>C
NM_002335.4:c.2317G>C MANE Select	NP_002326.2:p.Gly773Arg
NM_001291902.2:c.574G>C	NP_001278831.1:p.Gly192Arg