Canonical Allele Identifier: CA6150461

Gene: LRP5

Linked Data

• dbSNP Id: rs759961020
• ExAC: 11:68216292 A / T
• gnomAD v2: 11-68216292-A-T
• gnomAD v4: 11-68448824-A-T
• MyVariant Identifiers: chr11:g.68216292A>T (hg19) ; chr11:g.68448824A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448824A>T , CM000673.2:g.68448824A>T	GRCh38
NC_000011.9:g.68216292A>T , CM000673.1:g.68216292A>T	GRCh37
NC_000011.8:g.67972868A>T	NCBI36
NG_015835.1:g.141185A>T
NG_015835.2:g.141185A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4602A>T MANE Select	ENSP00000294304.6:p.Arg1534=
ENST00000294304.11:c.4602A>T	ENSP00000294304.6:p.Arg1534=
ENST00000529481.1:n.193A>T
ENST00000529702.1:c.272A>T
ENST00000529993.5:c.*3208A>T	ENSP00000436652.1:n.*3208A>T
NM_001291902.1:c.2859A>T	NP_001278831.1:p.Arg953=
NM_002335.3:c.4602A>T	NP_002326.2:p.Arg1534=
XM_005273994.2:c.4716A>T	XP_005274051.1:p.Arg1572=
XM_011545029.1:c.4743A>T	XP_011543331.1:p.Arg1581=
XM_011545030.1:c.4629A>T	XP_011543332.1:p.Arg1543=
XM_011545031.1:c.4759A>T	XP_011543333.1:p.Arg1587Trp
XR_949925.1:n.4989A>T
XR_949926.1:n.5005A>T
XM_017017735.1:c.2973A>T	XP_016873224.1:p.Arg991=
XM_017017736.1:c.2256A>T	XP_016873225.1:p.Arg752=
XR_949925.2:n.4989A>T
XR_949926.2:n.5005A>T
NM_002335.4:c.4602A>T MANE Select	NP_002326.2:p.Arg1534=
NM_001291902.2:c.2859A>T	NP_001278831.1:p.Arg953=