Canonical Allele Identifier: CA475516226

Gene: LRP5

Linked Data

• gnomAD v4: 11-68406531-C-T
• MyVariant Identifiers: chr11:g.68173999C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406531C>T , CM000673.2:g.68406531C>T	GRCh38
NC_000011.9:g.68173999C>T , CM000673.1:g.68173999C>T	GRCh37
NC_000011.8:g.67930575C>T	NCBI36
NG_015835.1:g.98892C>T
NG_015835.2:g.98892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1809C>T MANE Select	ENSP00000294304.6:p.Asn603=
ENST00000294304.11:c.1809C>T	ENSP00000294304.6:p.Asn603=
ENST00000528890.1:n.448C>T
ENST00000529993.5:c.*415C>T	ENSP00000436652.1:n.*415C>T
NM_001291902.1:c.66C>T	NP_001278831.1:p.Asn22=
NM_002335.3:c.1809C>T	NP_002326.2:p.Asn603=
XM_005273994.2:c.1809C>T	XP_005274051.1:p.Asn603=
XM_011545029.1:c.1836C>T	XP_011543331.1:p.Asn612=
XM_011545030.1:c.1836C>T	XP_011543332.1:p.Asn612=
XM_011545031.1:c.1836C>T	XP_011543333.1:p.Asn612=
XR_949925.1:n.1851C>T
XR_949926.1:n.1851C>T
XM_017017735.1:c.66C>T	XP_016873224.1:p.Asn22=
XR_001747874.1:n.1851C>T
XR_949925.2:n.1851C>T
XR_949926.2:n.1851C>T
NM_002335.4:c.1809C>T MANE Select	NP_002326.2:p.Asn603=
NM_001291902.2:c.66C>T	NP_001278831.1:p.Asn22=