Canonical Allele Identifier: CA224254691

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68438570C>T , CM000673.2:g.68438570C>T	GRCh38
NC_000011.9:g.68206038C>T , CM000673.1:g.68206038C>T	GRCh37
NC_000011.8:g.67962614C>T	NCBI36
NG_015835.1:g.130931C>T
NG_015835.2:g.130931C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.4236C>T MANE Select	NP_002326.2:p.Cys1412=
ENST00000294304.12:c.4236C>T MANE Select	ENSP00000294304.6:p.Cys1412=
NM_001291902.1:c.2493C>T	NP_001278831.1:p.Cys831=
NM_001291902.2:c.2493C>T	NP_001278831.1:p.Cys831=
NM_002335.3:c.4236C>T	NP_002326.2:p.Cys1412=
ENST00000294304.11:c.4236C>T	ENSP00000294304.6:p.Cys1412=
ENST00000529993.5:c.*2842C>T	ENSP00000436652.1:n.*2842C>T
XM_005273994.2:c.4236C>T	XP_005274051.1:p.Cys1412=
XM_011545029.1:c.4263C>T	XP_011543331.1:p.Cys1421=
XM_011545030.1:c.4263C>T	XP_011543332.1:p.Cys1421=
XM_011545031.1:c.4263C>T	XP_011543333.1:p.Cys1421=
XM_017017735.1:c.2493C>T	XP_016873224.1:p.Cys831=
XM_017017736.1:c.1776C>T	XP_016873225.1:p.Cys592=
XR_949925.1:n.4278C>T
XR_949925.2:n.4278C>T
XR_949926.1:n.4278C>T
XR_949926.2:n.4278C>T