Canonical Allele Identifier: CA381610983

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68131255C>G (hg19) ; chr11:g.68363787C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68363787C>G , CM000673.2:g.68363787C>G	GRCh38
NC_000011.9:g.68131255C>G , CM000673.1:g.68131255C>G	GRCh37
NC_000011.8:g.67887831C>G	NCBI36
NG_015835.1:g.56148C>G
NG_015835.2:g.56148C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.727C>G MANE Select	ENSP00000294304.6:p.Leu243Val
ENST00000294304.11:c.727C>G	ENSP00000294304.6:p.Leu243Val
ENST00000529993.5:c.727C>G	ENSP00000436652.1:p.Leu243Val
NM_001291902.1:c.-1039C>G	NP_001278831.1:n.-1039C>G
NM_002335.3:c.727C>G	NP_002326.2:p.Leu243Val
XM_005273994.2:c.727C>G	XP_005274051.1:p.Leu243Val
XM_011545029.1:c.754C>G	XP_011543331.1:p.Leu252Val
XM_011545030.1:c.754C>G	XP_011543332.1:p.Leu252Val
XM_011545031.1:c.754C>G	XP_011543333.1:p.Leu252Val
XR_949925.1:n.769C>G
XR_949926.1:n.769C>G
XR_001747874.1:n.769C>G
XR_949925.2:n.769C>G
XR_949926.2:n.769C>G
NM_002335.4:c.727C>G MANE Select	NP_002326.2:p.Leu243Val
NM_001291902.2:c.-1039C>G	NP_001278831.1:n.-1039C>G