Canonical Allele Identifier: CA475460125

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68125152C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357684C>A , CM000673.2:g.68357684C>A	GRCh38
NC_000011.9:g.68125152C>A , CM000673.1:g.68125152C>A	GRCh37
NC_000011.8:g.67881728C>A	NCBI36
NG_015835.1:g.50045C>A
NG_015835.2:g.50045C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.523C>A MANE Select	ENSP00000294304.6:p.Arg175=
ENST00000294304.11:c.523C>A	ENSP00000294304.6:p.Arg175=
ENST00000529993.5:c.523C>A	ENSP00000436652.1:p.Arg175=
NM_001291902.1:c.-1243C>A	NP_001278831.1:n.-1243C>A
NM_002335.3:c.523C>A	NP_002326.2:p.Arg175=
XM_005273994.2:c.523C>A	XP_005274051.1:p.Arg175=
XM_011545029.1:c.550C>A	XP_011543331.1:p.Arg184=
XM_011545030.1:c.550C>A	XP_011543332.1:p.Arg184=
XM_011545031.1:c.550C>A	XP_011543333.1:p.Arg184=
XR_949925.1:n.565C>A
XR_949926.1:n.565C>A
XR_001747874.1:n.565C>A
XR_949925.2:n.565C>A
XR_949926.2:n.565C>A
NM_002335.4:c.523C>A MANE Select	NP_002326.2:p.Arg175=
NM_001291902.2:c.-1243C>A	NP_001278831.1:n.-1243C>A