Canonical Allele Identifier: CA381615634

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2746026
• ClinVar RCV Id: RCV003568336
• gnomAD v4: 11-68406671-C-T
• MyVariant Identifiers: chr11:g.68174139C>T (hg19) ; chr11:g.68406671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406671C>T , CM000673.2:g.68406671C>T	GRCh38
NC_000011.9:g.68174139C>T , CM000673.1:g.68174139C>T	GRCh37
NC_000011.8:g.67930715C>T	NCBI36
NG_015835.1:g.99032C>T
NG_015835.2:g.99032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1949C>T MANE Select	ENSP00000294304.6:p.Thr650Ile
ENST00000294304.11:c.1949C>T	ENSP00000294304.6:p.Thr650Ile
ENST00000529993.5:c.*555C>T	ENSP00000436652.1:n.*555C>T
NM_001291902.1:c.206C>T	NP_001278831.1:p.Thr69Ile
NM_002335.3:c.1949C>T	NP_002326.2:p.Thr650Ile
XM_005273994.2:c.1949C>T	XP_005274051.1:p.Thr650Ile
XM_011545029.1:c.1976C>T	XP_011543331.1:p.Thr659Ile
XM_011545030.1:c.1976C>T	XP_011543332.1:p.Thr659Ile
XM_011545031.1:c.1976C>T	XP_011543333.1:p.Thr659Ile
XR_949925.1:n.1991C>T
XR_949926.1:n.1991C>T
XM_017017735.1:c.206C>T	XP_016873224.1:p.Thr69Ile
XR_001747874.1:n.1991C>T
XR_949925.2:n.1991C>T
XR_949926.2:n.1991C>T
NM_002335.4:c.1949C>T MANE Select	NP_002326.2:p.Thr650Ile
NM_001291902.2:c.206C>T	NP_001278831.1:p.Thr69Ile