Canonical Allele Identifier: CA475462508

Gene: LRP5

Linked Data

• dbSNP Id: rs763403461
• gnomAD v2: 11-68216301-G-T
• gnomAD v4: 11-68448833-G-T
• MyVariant Identifiers: chr11:g.68216301G>T (hg19) ; chr11:g.68448833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448833G>T , CM000673.2:g.68448833G>T	GRCh38
NC_000011.9:g.68216301G>T , CM000673.1:g.68216301G>T	GRCh37
NC_000011.8:g.67972877G>T	NCBI36
NG_015835.1:g.141194G>T
NG_015835.2:g.141194G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4611G>T MANE Select	ENSP00000294304.6:p.Ala1537=
ENST00000294304.11:c.4611G>T	ENSP00000294304.6:p.Ala1537=
ENST00000529481.1:n.202G>T
ENST00000529702.1:c.281G>T
ENST00000529993.5:c.*3217G>T	ENSP00000436652.1:n.*3217G>T
NM_001291902.1:c.2868G>T	NP_001278831.1:p.Ala956=
NM_002335.3:c.4611G>T	NP_002326.2:p.Ala1537=
XM_005273994.2:c.4725G>T	XP_005274051.1:p.Ala1575=
XM_011545029.1:c.4752G>T	XP_011543331.1:p.Ala1584=
XM_011545030.1:c.4638G>T	XP_011543332.1:p.Ala1546=
XM_011545031.1:c.4768G>T	XP_011543333.1:p.Ala1590Ser
XR_949925.1:n.4998G>T
XR_949926.1:n.5014G>T
XM_017017735.1:c.2982G>T	XP_016873224.1:p.Ala994=
XM_017017736.1:c.2265G>T	XP_016873225.1:p.Ala755=
XR_949925.2:n.4998G>T
XR_949926.2:n.5014G>T
NM_002335.4:c.4611G>T MANE Select	NP_002326.2:p.Ala1537=
NM_001291902.2:c.2868G>T	NP_001278831.1:p.Ala956=