Canonical Allele Identifier: CA235841

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357846C>T , CM000673.2:g.68357846C>T	GRCh38
NC_000011.9:g.68125314C>T , CM000673.1:g.68125314C>T	GRCh37
NC_000011.8:g.67881890C>T	NCBI36
NG_015835.1:g.50207C>T
NG_015835.2:g.50207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.685C>T MANE Select	ENSP00000294304.6:p.Arg229Trp
ENST00000294304.11:c.685C>T	ENSP00000294304.6:p.Arg229Trp
ENST00000529993.5:c.685C>T	ENSP00000436652.1:p.Arg229Trp
NM_001291902.1:c.-1081C>T	NP_001278831.1:n.-1081C>T
NM_002335.3:c.685C>T	NP_002326.2:p.Arg229Trp
XM_005273994.2:c.685C>T	XP_005274051.1:p.Arg229Trp
XM_011545029.1:c.712C>T	XP_011543331.1:p.Arg238Trp
XM_011545030.1:c.712C>T	XP_011543332.1:p.Arg238Trp
XM_011545031.1:c.712C>T	XP_011543333.1:p.Arg238Trp
XR_949925.1:n.727C>T
XR_949926.1:n.727C>T
XR_001747874.1:n.727C>T
XR_949925.2:n.727C>T
XR_949926.2:n.727C>T
NM_002335.4:c.685C>T MANE Select	NP_002326.2:p.Arg229Trp
NM_001291902.2:c.-1081C>T	NP_001278831.1:n.-1081C>T