Canonical Allele Identifier: CA2614716847
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68446372G>C , CM000673.2:g.68446372G>C GRCh38
NC_000011.9:g.68213840G>C , CM000673.1:g.68213840G>C GRCh37
NC_000011.8:g.67970416G>C NCBI36
NG_015835.1:g.138733G>C
NG_015835.2:g.138733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.4489-64G>C MANE Select ENSP00000294304.6:n.4489-64G>C
ENST00000294304.11:c.4489-64G>C ENSP00000294304.6:n.4489-64G>C
ENST00000529702.1:c.159-64G>C
ENST00000529993.5:c.*3095-64G>C ENSP00000436652.1:n.*3095-64G>C
NM_001291902.1:c.2746-64G>C NP_001278831.1:n.2746-64G>C
NM_002335.3:c.4489-64G>C NP_002326.2:n.4489-64G>C
XM_005273994.2:c.4603-64G>C XP_005274051.1:n.4603-64G>C
XM_011545029.1:c.4630-64G>C XP_011543331.1:n.4630-64G>C
XM_011545030.1:c.4516-64G>C XP_011543332.1:n.4516-64G>C
XM_011545031.1:c.4646-64G>C XP_011543333.1:n.4646-64G>C
XR_949925.1:n.4645-64G>C
XR_949926.1:n.4661-64G>C
XM_017017735.1:c.2860-64G>C XP_016873224.1:n.2860-64G>C
XM_017017736.1:c.2143-64G>C XP_016873225.1:n.2143-64G>C
XR_949925.2:n.4645-64G>C
XR_949926.2:n.4661-64G>C
NM_002335.4:c.4489-64G>C MANE Select NP_002326.2:n.4489-64G>C
NM_001291902.2:c.2746-64G>C NP_001278831.1:n.2746-64G>C