Canonical Allele Identifier: CA381613818

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68201185G>C (hg19) ; chr11:g.68433717G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433717G>C , CM000673.2:g.68433717G>C	GRCh38
NC_000011.9:g.68201185G>C , CM000673.1:g.68201185G>C	GRCh37
NC_000011.8:g.67957761G>C	NCBI36
NG_015835.1:g.126078G>C
NG_015835.2:g.126078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3879G>C MANE Select	ENSP00000294304.6:p.Glu1293Asp
ENST00000294304.11:c.3879G>C	ENSP00000294304.6:p.Glu1293Asp
ENST00000529993.5:c.*2485G>C	ENSP00000436652.1:n.*2485G>C
NM_001291902.1:c.2136G>C	NP_001278831.1:p.Glu712Asp
NM_002335.3:c.3879G>C	NP_002326.2:p.Glu1293Asp
XM_005273994.2:c.3879G>C	XP_005274051.1:p.Glu1293Asp
XM_011545029.1:c.3906G>C	XP_011543331.1:p.Glu1302Asp
XM_011545030.1:c.3906G>C	XP_011543332.1:p.Glu1302Asp
XM_011545031.1:c.3906G>C	XP_011543333.1:p.Glu1302Asp
XR_949925.1:n.3921G>C
XR_949926.1:n.3921G>C
XM_017017735.1:c.2136G>C	XP_016873224.1:p.Glu712Asp
XM_017017736.1:c.1419G>C	XP_016873225.1:p.Glu473Asp
XR_949925.2:n.3921G>C
XR_949926.2:n.3921G>C
NM_002335.4:c.3879G>C MANE Select	NP_002326.2:p.Glu1293Asp
NM_001291902.2:c.2136G>C	NP_001278831.1:p.Glu712Asp