Canonical Allele Identifier: CA381617883

Gene: LRP5

Linked Data

• dbSNP Id: rs377147274
• MyVariant Identifiers: chr11:g.68216303C>A (hg19) ; chr11:g.68448835C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448835C>A , CM000673.2:g.68448835C>A	GRCh38
NC_000011.9:g.68216303C>A , CM000673.1:g.68216303C>A	GRCh37
NC_000011.8:g.67972879C>A	NCBI36
NG_015835.1:g.141196C>A
NG_015835.2:g.141196C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4613C>A MANE Select	ENSP00000294304.6:p.Pro1538His
ENST00000294304.11:c.4613C>A	ENSP00000294304.6:p.Pro1538His
ENST00000529481.1:n.204C>A
ENST00000529702.1:c.283C>A
ENST00000529993.5:c.*3219C>A	ENSP00000436652.1:n.*3219C>A
NM_001291902.1:c.2870C>A	NP_001278831.1:p.Pro957His
NM_002335.3:c.4613C>A	NP_002326.2:p.Pro1538His
XM_005273994.2:c.4727C>A	XP_005274051.1:p.Pro1576His
XM_011545029.1:c.4754C>A	XP_011543331.1:p.Pro1585His
XM_011545030.1:c.4640C>A	XP_011543332.1:p.Pro1547His
XM_011545031.1:c.4770C>A	XP_011543333.1:p.Ala1590=
XR_949925.1:n.5000C>A
XR_949926.1:n.5016C>A
XM_017017735.1:c.2984C>A	XP_016873224.1:p.Pro995His
XM_017017736.1:c.2267C>A	XP_016873225.1:p.Pro756His
XR_949925.2:n.5000C>A
XR_949926.2:n.5016C>A
NM_002335.4:c.4613C>A MANE Select	NP_002326.2:p.Pro1538His
NM_001291902.2:c.2870C>A	NP_001278831.1:p.Pro957His