Canonical Allele Identifier: CA381610297

Gene: LRP5

Linked Data

• ClinVar Variation Id: 835386
• ClinVar RCV Id: RCV001036257
• dbSNP Id: rs1242896791
• gnomAD v2: 11-68115436-G-C
• gnomAD v4: 11-68347968-G-C
• MyVariant Identifiers: chr11:g.68115436G>C (hg19) ; chr11:g.68347968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68347968G>C , CM000673.2:g.68347968G>C	GRCh38
NC_000011.9:g.68115436G>C , CM000673.1:g.68115436G>C	GRCh37
NC_000011.8:g.67872012G>C	NCBI36
NG_015835.1:g.40329G>C
NG_015835.2:g.40329G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.213G>C MANE Select	ENSP00000294304.6:p.Gln71His
ENST00000294304.11:c.213G>C	ENSP00000294304.6:p.Gln71His
ENST00000529993.5:c.213G>C	ENSP00000436652.1:p.Gln71His
NM_001291902.1:c.-1553G>C	NP_001278831.1:n.-1553G>C
NM_002335.3:c.213G>C	NP_002326.2:p.Gln71His
XM_005273994.2:c.213G>C	XP_005274051.1:p.Gln71His
XM_011545029.1:c.240G>C	XP_011543331.1:p.Gln80His
XM_011545030.1:c.240G>C	XP_011543332.1:p.Gln80His
XM_011545031.1:c.240G>C	XP_011543333.1:p.Gln80His
XR_949925.1:n.255G>C
XR_949926.1:n.255G>C
XR_001747874.1:n.255G>C
XR_949925.2:n.255G>C
XR_949926.2:n.255G>C
NM_002335.4:c.213G>C MANE Select	NP_002326.2:p.Gln71His
NM_001291902.2:c.-1553G>C	NP_001278831.1:n.-1553G>C