Canonical Allele Identifier: CA475463062
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68177456C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68409988C>T , CM000673.2:g.68409988C>T GRCh38
NC_000011.9:g.68177456C>T , CM000673.1:g.68177456C>T GRCh37
NC_000011.8:g.67934032C>T NCBI36
NG_015835.1:g.102349C>T
NG_015835.2:g.102349C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.2166C>T MANE Select ENSP00000294304.6:p.Gly722=
ENST00000294304.11:c.2166C>T ENSP00000294304.6:p.Gly722=
ENST00000529993.5:c.*772C>T ENSP00000436652.1:n.*772C>T
NM_001291902.1:c.423C>T NP_001278831.1:p.Gly141=
NM_002335.3:c.2166C>T NP_002326.2:p.Gly722=
XM_005273994.2:c.2166C>T XP_005274051.1:p.Gly722=
XM_011545029.1:c.2193C>T XP_011543331.1:p.Gly731=
XM_011545030.1:c.2193C>T XP_011543332.1:p.Gly731=
XM_011545031.1:c.2193C>T XP_011543333.1:p.Gly731=
XR_949925.1:n.2208C>T
XR_949926.1:n.2208C>T
XM_017017735.1:c.423C>T XP_016873224.1:p.Gly141=
XR_001747874.1:n.2208C>T
XR_949925.2:n.2208C>T
XR_949926.2:n.2208C>T
NM_002335.4:c.2166C>T MANE Select NP_002326.2:p.Gly722=
NM_001291902.2:c.423C>T NP_001278831.1:p.Gly141=