Canonical Allele Identifier: CA475516770
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68115436G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68347968G>A , CM000673.2:g.68347968G>A GRCh38
NC_000011.9:g.68115436G>A , CM000673.1:g.68115436G>A GRCh37
NC_000011.8:g.67872012G>A NCBI36
NG_015835.1:g.40329G>A
NG_015835.2:g.40329G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.213G>A MANE Select ENSP00000294304.6:p.Gln71=
ENST00000294304.11:c.213G>A ENSP00000294304.6:p.Gln71=
ENST00000529993.5:c.213G>A ENSP00000436652.1:p.Gln71=
NM_001291902.1:c.-1553G>A NP_001278831.1:n.-1553G>A
NM_002335.3:c.213G>A NP_002326.2:p.Gln71=
XM_005273994.2:c.213G>A XP_005274051.1:p.Gln71=
XM_011545029.1:c.240G>A XP_011543331.1:p.Gln80=
XM_011545030.1:c.240G>A XP_011543332.1:p.Gln80=
XM_011545031.1:c.240G>A XP_011543333.1:p.Gln80=
XR_949925.1:n.255G>A
XR_949926.1:n.255G>A
XR_001747874.1:n.255G>A
XR_949925.2:n.255G>A
XR_949926.2:n.255G>A
NM_002335.4:c.213G>A MANE Select NP_002326.2:p.Gln71=
NM_001291902.2:c.-1553G>A NP_001278831.1:n.-1553G>A