Canonical Allele Identifier: CA381617832

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68216291G>C (hg19) ; chr11:g.68448823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448823G>C , CM000673.2:g.68448823G>C	GRCh38
NC_000011.9:g.68216291G>C , CM000673.1:g.68216291G>C	GRCh37
NC_000011.8:g.67972867G>C	NCBI36
NG_015835.1:g.141184G>C
NG_015835.2:g.141184G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4601G>C MANE Select	ENSP00000294304.6:p.Arg1534Pro
ENST00000294304.11:c.4601G>C	ENSP00000294304.6:p.Arg1534Pro
ENST00000529481.1:n.192G>C
ENST00000529702.1:c.271G>C
ENST00000529993.5:c.*3207G>C	ENSP00000436652.1:n.*3207G>C
NM_001291902.1:c.2858G>C	NP_001278831.1:p.Arg953Pro
NM_002335.3:c.4601G>C	NP_002326.2:p.Arg1534Pro
XM_005273994.2:c.4715G>C	XP_005274051.1:p.Arg1572Pro
XM_011545029.1:c.4742G>C	XP_011543331.1:p.Arg1581Pro
XM_011545030.1:c.4628G>C	XP_011543332.1:p.Arg1543Pro
XM_011545031.1:c.4758G>C	XP_011543333.1:p.Ser1586=
XR_949925.1:n.4988G>C
XR_949926.1:n.5004G>C
XM_017017735.1:c.2972G>C	XP_016873224.1:p.Arg991Pro
XM_017017736.1:c.2255G>C	XP_016873225.1:p.Arg752Pro
XR_949925.2:n.4988G>C
XR_949926.2:n.5004G>C
NM_002335.4:c.4601G>C MANE Select	NP_002326.2:p.Arg1534Pro
NM_001291902.2:c.2858G>C	NP_001278831.1:p.Arg953Pro