Canonical Allele Identifier: CA475516427
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68174200G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406732G>C , CM000673.2:g.68406732G>C GRCh38
NC_000011.9:g.68174200G>C , CM000673.1:g.68174200G>C GRCh37
NC_000011.8:g.67930776G>C NCBI36
NG_015835.1:g.99093G>C
NG_015835.2:g.99093G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2010G>C MANE Select ENSP00000294304.6:p.Pro670=
ENST00000294304.11:c.2010G>C ENSP00000294304.6:p.Pro670=
ENST00000529993.5:c.*616G>C ENSP00000436652.1:n.*616G>C
NM_001291902.1:c.267G>C NP_001278831.1:p.Pro89=
NM_002335.3:c.2010G>C NP_002326.2:p.Pro670=
XM_005273994.2:c.2010G>C XP_005274051.1:p.Pro670=
XM_011545029.1:c.2037G>C XP_011543331.1:p.Pro679=
XM_011545030.1:c.2037G>C XP_011543332.1:p.Pro679=
XM_011545031.1:c.2037G>C XP_011543333.1:p.Pro679=
XR_949925.1:n.2052G>C
XR_949926.1:n.2052G>C
XM_017017735.1:c.267G>C XP_016873224.1:p.Pro89=
XR_001747874.1:n.2052G>C
XR_949925.2:n.2052G>C
XR_949926.2:n.2052G>C
NM_002335.4:c.2010G>C MANE Select NP_002326.2:p.Pro670=
NM_001291902.2:c.267G>C NP_001278831.1:p.Pro89=