Canonical Allele Identifier: CA475463097
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68177522G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410054G>A , CM000673.2:g.68410054G>A GRCh38
NC_000011.9:g.68177522G>A , CM000673.1:g.68177522G>A GRCh37
NC_000011.8:g.67934098G>A NCBI36
NG_015835.1:g.102415G>A
NG_015835.2:g.102415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2232G>A MANE Select ENSP00000294304.6:p.Val744=
ENST00000294304.11:c.2232G>A ENSP00000294304.6:p.Val744=
ENST00000528714.1:n.26G>A
ENST00000529993.5:c.*838G>A ENSP00000436652.1:n.*838G>A
NM_001291902.1:c.489G>A NP_001278831.1:p.Val163=
NM_002335.3:c.2232G>A NP_002326.2:p.Val744=
XM_005273994.2:c.2232G>A XP_005274051.1:p.Val744=
XM_011545029.1:c.2259G>A XP_011543331.1:p.Val753=
XM_011545030.1:c.2259G>A XP_011543332.1:p.Val753=
XM_011545031.1:c.2259G>A XP_011543333.1:p.Val753=
XR_949925.1:n.2274G>A
XR_949926.1:n.2274G>A
XM_017017735.1:c.489G>A XP_016873224.1:p.Val163=
XR_001747874.1:n.2274G>A
XR_949925.2:n.2274G>A
XR_949926.2:n.2274G>A
NM_002335.4:c.2232G>A MANE Select NP_002326.2:p.Val744=
NM_001291902.2:c.489G>A NP_001278831.1:p.Val163=