Canonical Allele Identifier: CA475460143

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68125178C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357710C>T , CM000673.2:g.68357710C>T	GRCh38
NC_000011.9:g.68125178C>T , CM000673.1:g.68125178C>T	GRCh37
NC_000011.8:g.67881754C>T	NCBI36
NG_015835.1:g.50071C>T
NG_015835.2:g.50071C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.549C>T MANE Select	ENSP00000294304.6:p.Gly183=
ENST00000294304.11:c.549C>T	ENSP00000294304.6:p.Gly183=
ENST00000529993.5:c.549C>T	ENSP00000436652.1:p.Gly183=
NM_001291902.1:c.-1217C>T	NP_001278831.1:n.-1217C>T
NM_002335.3:c.549C>T	NP_002326.2:p.Gly183=
XM_005273994.2:c.549C>T	XP_005274051.1:p.Gly183=
XM_011545029.1:c.576C>T	XP_011543331.1:p.Gly192=
XM_011545030.1:c.576C>T	XP_011543332.1:p.Gly192=
XM_011545031.1:c.576C>T	XP_011543333.1:p.Gly192=
XR_949925.1:n.591C>T
XR_949926.1:n.591C>T
XR_001747874.1:n.591C>T
XR_949925.2:n.591C>T
XR_949926.2:n.591C>T
NM_002335.4:c.549C>T MANE Select	NP_002326.2:p.Gly183=
NM_001291902.2:c.-1217C>T	NP_001278831.1:n.-1217C>T