Canonical Allele Identifier: CA2580084705
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1996788
ClinVar RCV Id: RCV002823829

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406507T>C , CM000673.2:g.68406507T>C GRCh38
NC_000011.9:g.68173975T>C , CM000673.1:g.68173975T>C GRCh37
NC_000011.8:g.67930551T>C NCBI36
NG_015835.1:g.98868T>C
NG_015835.2:g.98868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1802-17T>C MANE Select ENSP00000294304.6:n.1802-17T>C
ENST00000294304.11:c.1802-17T>C ENSP00000294304.6:n.1802-17T>C
ENST00000528890.1:n.441-17T>C
ENST00000529993.5:c.*408-17T>C ENSP00000436652.1:n.*408-17T>C
NM_001291902.1:c.59-17T>C NP_001278831.1:n.59-17T>C
NM_002335.3:c.1802-17T>C NP_002326.2:n.1802-17T>C
XM_005273994.2:c.1802-17T>C XP_005274051.1:n.1802-17T>C
XM_011545029.1:c.1829-17T>C XP_011543331.1:n.1829-17T>C
XM_011545030.1:c.1829-17T>C XP_011543332.1:n.1829-17T>C
XM_011545031.1:c.1829-17T>C XP_011543333.1:n.1829-17T>C
XR_949925.1:n.1844-17T>C
XR_949926.1:n.1844-17T>C
XM_017017735.1:c.59-17T>C XP_016873224.1:n.59-17T>C
XR_001747874.1:n.1844-17T>C
XR_949925.2:n.1844-17T>C
XR_949926.2:n.1844-17T>C
NM_002335.4:c.1802-17T>C MANE Select NP_002326.2:n.1802-17T>C
NM_001291902.2:c.59-17T>C NP_001278831.1:n.59-17T>C