Canonical Allele Identifier: CA381614039

Gene: LRP5

Linked Data

• dbSNP Id: rs2153178761
• gnomAD v4: 11-68433826-G-A
• MyVariant Identifiers: chr11:g.68201294G>A (hg19) ; chr11:g.68433826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433826G>A , CM000673.2:g.68433826G>A	GRCh38
NC_000011.9:g.68201294G>A , CM000673.1:g.68201294G>A	GRCh37
NC_000011.8:g.67957870G>A	NCBI36
NG_015835.1:g.126187G>A
NG_015835.2:g.126187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3988G>A MANE Select	ENSP00000294304.6:p.Ala1330Thr
ENST00000294304.11:c.3988G>A	ENSP00000294304.6:p.Ala1330Thr
ENST00000529993.5:c.*2594G>A	ENSP00000436652.1:n.*2594G>A
NM_001291902.1:c.2245G>A	NP_001278831.1:p.Ala749Thr
NM_002335.3:c.3988G>A	NP_002326.2:p.Ala1330Thr
XM_005273994.2:c.3988G>A	XP_005274051.1:p.Ala1330Thr
XM_011545029.1:c.4015G>A	XP_011543331.1:p.Ala1339Thr
XM_011545030.1:c.4015G>A	XP_011543332.1:p.Ala1339Thr
XM_011545031.1:c.4015G>A	XP_011543333.1:p.Ala1339Thr
XR_949925.1:n.4030G>A
XR_949926.1:n.4030G>A
XM_017017735.1:c.2245G>A	XP_016873224.1:p.Ala749Thr
XM_017017736.1:c.1528G>A	XP_016873225.1:p.Ala510Thr
XR_949925.2:n.4030G>A
XR_949926.2:n.4030G>A
NM_002335.4:c.3988G>A MANE Select	NP_002326.2:p.Ala1330Thr
NM_001291902.2:c.2245G>A	NP_001278831.1:p.Ala749Thr