Canonical Allele Identifier: CA475460118
Gene: LRP5 HGNC NCBI

Linked Data

dbSNP Id: rs1591219432
MyVariant Identifiers: chr11:g.68125142T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357674T>G , CM000673.2:g.68357674T>G GRCh38
NC_000011.9:g.68125142T>G , CM000673.1:g.68125142T>G GRCh37
NC_000011.8:g.67881718T>G NCBI36
NG_015835.1:g.50035T>G
NG_015835.2:g.50035T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.513T>G MANE Select ENSP00000294304.6:p.Gly171=
ENST00000294304.11:c.513T>G ENSP00000294304.6:p.Gly171=
ENST00000529993.5:c.513T>G ENSP00000436652.1:p.Gly171=
NM_001291902.1:c.-1253T>G NP_001278831.1:n.-1253T>G
NM_002335.3:c.513T>G NP_002326.2:p.Gly171=
XM_005273994.2:c.513T>G XP_005274051.1:p.Gly171=
XM_011545029.1:c.540T>G XP_011543331.1:p.Gly180=
XM_011545030.1:c.540T>G XP_011543332.1:p.Gly180=
XM_011545031.1:c.540T>G XP_011543333.1:p.Gly180=
XR_949925.1:n.555T>G
XR_949926.1:n.555T>G
XR_001747874.1:n.555T>G
XR_949925.2:n.555T>G
XR_949926.2:n.555T>G
NM_002335.4:c.513T>G MANE Select NP_002326.2:p.Gly171=
NM_001291902.2:c.-1253T>G NP_001278831.1:n.-1253T>G