Canonical Allele Identifier: CA475462228
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68213915G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68446447G>C , CM000673.2:g.68446447G>C GRCh38
NC_000011.9:g.68213915G>C , CM000673.1:g.68213915G>C GRCh37
NC_000011.8:g.67970491G>C NCBI36
NG_015835.1:g.138808G>C
NG_015835.2:g.138808G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.4500G>C MANE Select ENSP00000294304.6:p.Pro1500=
ENST00000294304.11:c.4500G>C ENSP00000294304.6:p.Pro1500=
ENST00000529702.1:c.170G>C
ENST00000529993.5:c.*3106G>C ENSP00000436652.1:n.*3106G>C
NM_001291902.1:c.2757G>C NP_001278831.1:p.Pro919=
NM_002335.3:c.4500G>C NP_002326.2:p.Pro1500=
XM_005273994.2:c.4614G>C XP_005274051.1:p.Pro1538=
XM_011545029.1:c.4641G>C XP_011543331.1:p.Pro1547=
XM_011545030.1:c.4527G>C XP_011543332.1:p.Pro1509=
XM_011545031.1:c.4657G>C XP_011543333.1:p.Ala1553Pro
XR_949925.1:n.4656G>C
XR_949926.1:n.4672G>C
XM_017017735.1:c.2871G>C XP_016873224.1:p.Pro957=
XM_017017736.1:c.2154G>C XP_016873225.1:p.Pro718=
XR_949925.2:n.4656G>C
XR_949926.2:n.4672G>C
NM_002335.4:c.4500G>C MANE Select NP_002326.2:p.Pro1500=
NM_001291902.2:c.2757G>C NP_001278831.1:p.Pro919=