Canonical Allele Identifier: CA210905

Gene: LRP5

Linked Data

• ClinVar Variation Id: 162390
• ClinVar RCV Id: RCV000149785
• dbSNP Id: rs724159825
• gnomAD v3: 11-68426018-G-C
• gnomAD v4: 11-68426018-G-C
• MyVariant Identifiers: chr11:g.68193486G>C (hg19) ; chr11:g.68426018G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68426018G>C , CM000673.2:g.68426018G>C	GRCh38
NC_000011.9:g.68193486G>C , CM000673.1:g.68193486G>C	GRCh37
NC_000011.8:g.67950062G>C	NCBI36
NG_015835.1:g.118379G>C
NG_015835.2:g.118379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3468G>C MANE Select	ENSP00000294304.6:p.Gln1156His
ENST00000294304.11:c.3468G>C	ENSP00000294304.6:p.Gln1156His
ENST00000529993.5:c.*2074G>C	ENSP00000436652.1:n.*2074G>C
NM_001291902.1:c.1725G>C	NP_001278831.1:p.Gln575His
NM_002335.3:c.3468G>C	NP_002326.2:p.Gln1156His
XM_005273994.2:c.3468G>C	XP_005274051.1:p.Gln1156His
XM_011545029.1:c.3495G>C	XP_011543331.1:p.Gln1165His
XM_011545030.1:c.3495G>C	XP_011543332.1:p.Gln1165His
XM_011545031.1:c.3495G>C	XP_011543333.1:p.Gln1165His
XR_949925.1:n.3510G>C
XR_949926.1:n.3510G>C
XM_017017735.1:c.1725G>C	XP_016873224.1:p.Gln575His
XM_017017736.1:c.1008G>C	XP_016873225.1:p.Gln336His
XR_949925.2:n.3510G>C
XR_949926.2:n.3510G>C
NM_002335.4:c.3468G>C MANE Select	NP_002326.2:p.Gln1156His
NM_001291902.2:c.1725G>C	NP_001278831.1:p.Gln575His