Canonical Allele Identifier: CA475460784
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68201203C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68433735C>A , CM000673.2:g.68433735C>A GRCh38
NC_000011.9:g.68201203C>A , CM000673.1:g.68201203C>A GRCh37
NC_000011.8:g.67957779C>A NCBI36
NG_015835.1:g.126096C>A
NG_015835.2:g.126096C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.3897C>A MANE Select ENSP00000294304.6:p.Ser1299=
ENST00000294304.11:c.3897C>A ENSP00000294304.6:p.Ser1299=
ENST00000529993.5:c.*2503C>A ENSP00000436652.1:n.*2503C>A
NM_001291902.1:c.2154C>A NP_001278831.1:p.Ser718=
NM_002335.3:c.3897C>A NP_002326.2:p.Ser1299=
XM_005273994.2:c.3897C>A XP_005274051.1:p.Ser1299=
XM_011545029.1:c.3924C>A XP_011543331.1:p.Ser1308=
XM_011545030.1:c.3924C>A XP_011543332.1:p.Ser1308=
XM_011545031.1:c.3924C>A XP_011543333.1:p.Ser1308=
XR_949925.1:n.3939C>A
XR_949926.1:n.3939C>A
XM_017017735.1:c.2154C>A XP_016873224.1:p.Ser718=
XM_017017736.1:c.1437C>A XP_016873225.1:p.Ser479=
XR_949925.2:n.3939C>A
XR_949926.2:n.3939C>A
NM_002335.4:c.3897C>A MANE Select NP_002326.2:p.Ser1299=
NM_001291902.2:c.2154C>A NP_001278831.1:p.Ser718=