Canonical Allele Identifier: CA6150467

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448841C>T , CM000673.2:g.68448841C>T	GRCh38
NC_000011.9:g.68216309C>T , CM000673.1:g.68216309C>T	GRCh37
NC_000011.8:g.67972885C>T	NCBI36
NG_015835.1:g.141202C>T
NG_015835.2:g.141202C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.4619C>T MANE Select	NP_002326.2:p.Thr1540Met
ENST00000294304.12:c.4619C>T MANE Select	ENSP00000294304.6:p.Thr1540Met
NM_001291902.1:c.2876C>T	NP_001278831.1:p.Thr959Met
NM_001291902.2:c.2876C>T	NP_001278831.1:p.Thr959Met
NM_002335.3:c.4619C>T	NP_002326.2:p.Thr1540Met
ENST00000294304.11:c.4619C>T	ENSP00000294304.6:p.Thr1540Met
ENST00000529481.1:n.210C>T
ENST00000529702.1:c.289C>T
ENST00000529993.5:c.*3225C>T	ENSP00000436652.1:n.*3225C>T
XM_005273994.2:c.4733C>T	XP_005274051.1:p.Thr1578Met
XM_011545029.1:c.4760C>T	XP_011543331.1:p.Thr1587Met
XM_011545030.1:c.4646C>T	XP_011543332.1:p.Thr1549Met
XM_011545031.1:c.4776C>T	XP_011543333.1:p.Asp1592=
XM_017017735.1:c.2990C>T	XP_016873224.1:p.Thr997Met
XM_017017736.1:c.2273C>T	XP_016873225.1:p.Thr758Met
XR_949925.1:n.5006C>T
XR_949925.2:n.5006C>T
XR_949926.1:n.5022C>T
XR_949926.2:n.5022C>T