Canonical Allele Identifier: CA381613662

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68201115A>C (hg19) ; chr11:g.68433647A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433647A>C , CM000673.2:g.68433647A>C	GRCh38
NC_000011.9:g.68201115A>C , CM000673.1:g.68201115A>C	GRCh37
NC_000011.8:g.67957691A>C	NCBI36
NG_015835.1:g.126008A>C
NG_015835.2:g.126008A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3809A>C MANE Select	ENSP00000294304.6:p.Glu1270Ala
ENST00000294304.11:c.3809A>C	ENSP00000294304.6:p.Glu1270Ala
ENST00000529993.5:c.*2415A>C	ENSP00000436652.1:n.*2415A>C
NM_001291902.1:c.2066A>C	NP_001278831.1:p.Glu689Ala
NM_002335.3:c.3809A>C	NP_002326.2:p.Glu1270Ala
XM_005273994.2:c.3809A>C	XP_005274051.1:p.Glu1270Ala
XM_011545029.1:c.3836A>C	XP_011543331.1:p.Glu1279Ala
XM_011545030.1:c.3836A>C	XP_011543332.1:p.Glu1279Ala
XM_011545031.1:c.3836A>C	XP_011543333.1:p.Glu1279Ala
XR_949925.1:n.3851A>C
XR_949926.1:n.3851A>C
XM_017017735.1:c.2066A>C	XP_016873224.1:p.Glu689Ala
XM_017017736.1:c.1349A>C	XP_016873225.1:p.Glu450Ala
XR_949925.2:n.3851A>C
XR_949926.2:n.3851A>C
NM_002335.4:c.3809A>C MANE Select	NP_002326.2:p.Glu1270Ala
NM_001291902.2:c.2066A>C	NP_001278831.1:p.Glu689Ala