Canonical Allele Identifier: CA475460265

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1545614
• ClinVar RCV Id: RCV002168046
• dbSNP Id: rs2098629345
• gnomAD v4: 11-68363804-C-T
• MyVariant Identifiers: chr11:g.68131272C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68363804C>T , CM000673.2:g.68363804C>T	GRCh38
NC_000011.9:g.68131272C>T , CM000673.1:g.68131272C>T	GRCh37
NC_000011.8:g.67887848C>T	NCBI36
NG_015835.1:g.56165C>T
NG_015835.2:g.56165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.744C>T MANE Select	ENSP00000294304.6:p.Asp248=
ENST00000294304.11:c.744C>T	ENSP00000294304.6:p.Asp248=
ENST00000529993.5:c.744C>T	ENSP00000436652.1:p.Asp248=
NM_001291902.1:c.-1022C>T	NP_001278831.1:n.-1022C>T
NM_002335.3:c.744C>T	NP_002326.2:p.Asp248=
XM_005273994.2:c.744C>T	XP_005274051.1:p.Asp248=
XM_011545029.1:c.771C>T	XP_011543331.1:p.Asp257=
XM_011545030.1:c.771C>T	XP_011543332.1:p.Asp257=
XM_011545031.1:c.771C>T	XP_011543333.1:p.Asp257=
XR_949925.1:n.786C>T
XR_949926.1:n.786C>T
XR_001747874.1:n.786C>T
XR_949925.2:n.786C>T
XR_949926.2:n.786C>T
NM_002335.4:c.744C>T MANE Select	NP_002326.2:p.Asp248=
NM_001291902.2:c.-1022C>T	NP_001278831.1:n.-1022C>T