Canonical Allele Identifier: CA475516288

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1157730
• ClinVar RCV Id: RCV001500871
• dbSNP Id: rs2153164629
• MyVariant Identifiers: chr11:g.68174074C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406606C>T , CM000673.2:g.68406606C>T	GRCh38
NC_000011.9:g.68174074C>T , CM000673.1:g.68174074C>T	GRCh37
NC_000011.8:g.67930650C>T	NCBI36
NG_015835.1:g.98967C>T
NG_015835.2:g.98967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1884C>T MANE Select	ENSP00000294304.6:p.Pro628=
ENST00000294304.11:c.1884C>T	ENSP00000294304.6:p.Pro628=
ENST00000529993.5:c.*490C>T	ENSP00000436652.1:n.*490C>T
NM_001291902.1:c.141C>T	NP_001278831.1:p.Pro47=
NM_002335.3:c.1884C>T	NP_002326.2:p.Pro628=
XM_005273994.2:c.1884C>T	XP_005274051.1:p.Pro628=
XM_011545029.1:c.1911C>T	XP_011543331.1:p.Pro637=
XM_011545030.1:c.1911C>T	XP_011543332.1:p.Pro637=
XM_011545031.1:c.1911C>T	XP_011543333.1:p.Pro637=
XR_949925.1:n.1926C>T
XR_949926.1:n.1926C>T
XM_017017735.1:c.141C>T	XP_016873224.1:p.Pro47=
XR_001747874.1:n.1926C>T
XR_949925.2:n.1926C>T
XR_949926.2:n.1926C>T
NM_002335.4:c.1884C>T MANE Select	NP_002326.2:p.Pro628=
NM_001291902.2:c.141C>T	NP_001278831.1:p.Pro47=