Canonical Allele Identifier: CA6149476

Gene: LRP5

Linked Data

• dbSNP Id: rs768712336
• ExAC: 11:68174057 A / T
• gnomAD v2: 11-68174057-A-T
• gnomAD v4: 11-68406589-A-T
• MyVariant Identifiers: chr11:g.68174057A>T (hg19) ; chr11:g.68406589A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406589A>T , CM000673.2:g.68406589A>T	GRCh38
NC_000011.9:g.68174057A>T , CM000673.1:g.68174057A>T	GRCh37
NC_000011.8:g.67930633A>T	NCBI36
NG_015835.1:g.98950A>T
NG_015835.2:g.98950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1867A>T MANE Select	ENSP00000294304.6:p.Thr623Ser
ENST00000294304.11:c.1867A>T	ENSP00000294304.6:p.Thr623Ser
ENST00000529993.5:c.*473A>T	ENSP00000436652.1:n.*473A>T
NM_001291902.1:c.124A>T	NP_001278831.1:p.Thr42Ser
NM_002335.3:c.1867A>T	NP_002326.2:p.Thr623Ser
XM_005273994.2:c.1867A>T	XP_005274051.1:p.Thr623Ser
XM_011545029.1:c.1894A>T	XP_011543331.1:p.Thr632Ser
XM_011545030.1:c.1894A>T	XP_011543332.1:p.Thr632Ser
XM_011545031.1:c.1894A>T	XP_011543333.1:p.Thr632Ser
XR_949925.1:n.1909A>T
XR_949926.1:n.1909A>T
XM_017017735.1:c.124A>T	XP_016873224.1:p.Thr42Ser
XR_001747874.1:n.1909A>T
XR_949925.2:n.1909A>T
XR_949926.2:n.1909A>T
NM_002335.4:c.1867A>T MANE Select	NP_002326.2:p.Thr623Ser
NM_001291902.2:c.124A>T	NP_001278831.1:p.Thr42Ser