Canonical Allele Identifier: CA6150148

Gene: LRP5

Linked Data

• dbSNP Id: rs780929844
• ExAC: 11:68201212 G / T
• gnomAD v2: 11-68201212-G-T
• gnomAD v4: 11-68433744-G-T
• MyVariant Identifiers: chr11:g.68201212G>T (hg19) ; chr11:g.68433744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433744G>T , CM000673.2:g.68433744G>T	GRCh38
NC_000011.9:g.68201212G>T , CM000673.1:g.68201212G>T	GRCh37
NC_000011.8:g.67957788G>T	NCBI36
NG_015835.1:g.126105G>T
NG_015835.2:g.126105G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3906G>T MANE Select	ENSP00000294304.6:p.Gln1302His
ENST00000294304.11:c.3906G>T	ENSP00000294304.6:p.Gln1302His
ENST00000529993.5:c.*2512G>T	ENSP00000436652.1:n.*2512G>T
NM_001291902.1:c.2163G>T	NP_001278831.1:p.Gln721His
NM_002335.3:c.3906G>T	NP_002326.2:p.Gln1302His
XM_005273994.2:c.3906G>T	XP_005274051.1:p.Gln1302His
XM_011545029.1:c.3933G>T	XP_011543331.1:p.Gln1311His
XM_011545030.1:c.3933G>T	XP_011543332.1:p.Gln1311His
XM_011545031.1:c.3933G>T	XP_011543333.1:p.Gln1311His
XR_949925.1:n.3948G>T
XR_949926.1:n.3948G>T
XM_017017735.1:c.2163G>T	XP_016873224.1:p.Gln721His
XM_017017736.1:c.1446G>T	XP_016873225.1:p.Gln482His
XR_949925.2:n.3948G>T
XR_949926.2:n.3948G>T
NM_002335.4:c.3906G>T MANE Select	NP_002326.2:p.Gln1302His
NM_001291902.2:c.2163G>T	NP_001278831.1:p.Gln721His