Canonical Allele Identifier: CA475462220

Gene: LRP5

Linked Data

• dbSNP Id: rs1302476492
• gnomAD v2: 11-68213906-C-T
• gnomAD v4: 11-68446438-C-T
• MyVariant Identifiers: chr11:g.68213906C>T (hg19) ; chr11:g.68446438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446438C>T , CM000673.2:g.68446438C>T	GRCh38
NC_000011.9:g.68213906C>T , CM000673.1:g.68213906C>T	GRCh37
NC_000011.8:g.67970482C>T	NCBI36
NG_015835.1:g.138799C>T
NG_015835.2:g.138799C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4491C>T MANE Select	ENSP00000294304.6:p.Ile1497=
ENST00000294304.11:c.4491C>T	ENSP00000294304.6:p.Ile1497=
ENST00000529702.1:c.161C>T
ENST00000529993.5:c.*3097C>T	ENSP00000436652.1:n.*3097C>T
NM_001291902.1:c.2748C>T	NP_001278831.1:p.Ile916=
NM_002335.3:c.4491C>T	NP_002326.2:p.Ile1497=
XM_005273994.2:c.4605C>T	XP_005274051.1:p.Ile1535=
XM_011545029.1:c.4632C>T	XP_011543331.1:p.Ile1544=
XM_011545030.1:c.4518C>T	XP_011543332.1:p.Ile1506=
XM_011545031.1:c.4648C>T	XP_011543333.1:p.Pro1550Ser
XR_949925.1:n.4647C>T
XR_949926.1:n.4663C>T
XM_017017735.1:c.2862C>T	XP_016873224.1:p.Ile954=
XM_017017736.1:c.2145C>T	XP_016873225.1:p.Ile715=
XR_949925.2:n.4647C>T
XR_949926.2:n.4663C>T
NM_002335.4:c.4491C>T MANE Select	NP_002326.2:p.Ile1497=
NM_001291902.2:c.2748C>T	NP_001278831.1:p.Ile916=