Canonical Allele Identifier: CA381616868

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68213932C>A (hg19) ; chr11:g.68446464C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446464C>A , CM000673.2:g.68446464C>A	GRCh38
NC_000011.9:g.68213932C>A , CM000673.1:g.68213932C>A	GRCh37
NC_000011.8:g.67970508C>A	NCBI36
NG_015835.1:g.138825C>A
NG_015835.2:g.138825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4517C>A MANE Select	ENSP00000294304.6:p.Thr1506Lys
ENST00000294304.11:c.4517C>A	ENSP00000294304.6:p.Thr1506Lys
ENST00000529702.1:c.187C>A
ENST00000529993.5:c.*3123C>A	ENSP00000436652.1:n.*3123C>A
NM_001291902.1:c.2774C>A	NP_001278831.1:p.Thr925Lys
NM_002335.3:c.4517C>A	NP_002326.2:p.Thr1506Lys
XM_005273994.2:c.4631C>A	XP_005274051.1:p.Thr1544Lys
XM_011545029.1:c.4658C>A	XP_011543331.1:p.Thr1553Lys
XM_011545030.1:c.4544C>A	XP_011543332.1:p.Thr1515Lys
XM_011545031.1:c.4674C>A	XP_011543333.1:p.His1558Gln
XR_949925.1:n.4673C>A
XR_949926.1:n.4689C>A
XM_017017735.1:c.2888C>A	XP_016873224.1:p.Thr963Lys
XM_017017736.1:c.2171C>A	XP_016873225.1:p.Thr724Lys
XR_949925.2:n.4673C>A
XR_949926.2:n.4689C>A
NM_002335.4:c.4517C>A MANE Select	NP_002326.2:p.Thr1506Lys
NM_001291902.2:c.2774C>A	NP_001278831.1:p.Thr925Lys