Canonical Allele Identifier: CA381615711

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1951646
• ClinVar RCV Id: RCV002695074
• dbSNP Id: rs1443529052
• gnomAD v2: 11-68174175-C-T
• gnomAD v3: 11-68406707-C-T
• gnomAD v4: 11-68406707-C-T
• MyVariant Identifiers: chr11:g.68174175C>T (hg19) ; chr11:g.68406707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406707C>T , CM000673.2:g.68406707C>T	GRCh38
NC_000011.9:g.68174175C>T , CM000673.1:g.68174175C>T	GRCh37
NC_000011.8:g.67930751C>T	NCBI36
NG_015835.1:g.99068C>T
NG_015835.2:g.99068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1985C>T MANE Select	ENSP00000294304.6:p.Thr662Ile
ENST00000294304.11:c.1985C>T	ENSP00000294304.6:p.Thr662Ile
ENST00000529993.5:c.*591C>T	ENSP00000436652.1:n.*591C>T
NM_001291902.1:c.242C>T	NP_001278831.1:p.Thr81Ile
NM_002335.3:c.1985C>T	NP_002326.2:p.Thr662Ile
XM_005273994.2:c.1985C>T	XP_005274051.1:p.Thr662Ile
XM_011545029.1:c.2012C>T	XP_011543331.1:p.Thr671Ile
XM_011545030.1:c.2012C>T	XP_011543332.1:p.Thr671Ile
XM_011545031.1:c.2012C>T	XP_011543333.1:p.Thr671Ile
XR_949925.1:n.2027C>T
XR_949926.1:n.2027C>T
XM_017017735.1:c.242C>T	XP_016873224.1:p.Thr81Ile
XR_001747874.1:n.2027C>T
XR_949925.2:n.2027C>T
XR_949926.2:n.2027C>T
NM_002335.4:c.1985C>T MANE Select	NP_002326.2:p.Thr662Ile
NM_001291902.2:c.242C>T	NP_001278831.1:p.Thr81Ile