Canonical Allele Identifier: CA475463148
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68177591C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410123C>G , CM000673.2:g.68410123C>G GRCh38
NC_000011.9:g.68177591C>G , CM000673.1:g.68177591C>G GRCh37
NC_000011.8:g.67934167C>G NCBI36
NG_015835.1:g.102484C>G
NG_015835.2:g.102484C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2301C>G MANE Select ENSP00000294304.6:p.Ala767=
ENST00000294304.11:c.2301C>G ENSP00000294304.6:p.Ala767=
ENST00000528714.1:n.95C>G
ENST00000529993.5:c.*907C>G ENSP00000436652.1:n.*907C>G
NM_001291902.1:c.558C>G NP_001278831.1:p.Ala186=
NM_002335.3:c.2301C>G NP_002326.2:p.Ala767=
XM_005273994.2:c.2301C>G XP_005274051.1:p.Ala767=
XM_011545029.1:c.2328C>G XP_011543331.1:p.Ala776=
XM_011545030.1:c.2328C>G XP_011543332.1:p.Ala776=
XM_011545031.1:c.2328C>G XP_011543333.1:p.Ala776=
XR_949925.1:n.2343C>G
XR_949926.1:n.2343C>G
XM_017017735.1:c.558C>G XP_016873224.1:p.Ala186=
XR_001747874.1:n.2343C>G
XR_949925.2:n.2343C>G
XR_949926.2:n.2343C>G
NM_002335.4:c.2301C>G MANE Select NP_002326.2:p.Ala767=
NM_001291902.2:c.558C>G NP_001278831.1:p.Ala186=