Canonical Allele Identifier: CA1980621907
Gene: LRP5 HGNC NCBI

Linked Data

dbSNP Id: rs2098673148

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68433590T>C , CM000673.2:g.68433590T>C GRCh38
NC_000011.9:g.68201058T>C , CM000673.1:g.68201058T>C GRCh37
NC_000011.8:g.67957634T>C NCBI36
NG_015835.1:g.125951T>C
NG_015835.2:g.125951T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.3764-12T>C MANE Select ENSP00000294304.6:n.3764-12T>C
ENST00000294304.11:c.3764-12T>C ENSP00000294304.6:n.3764-12T>C
ENST00000529993.5:c.*2370-12T>C ENSP00000436652.1:n.*2370-12T>C
NM_001291902.1:c.2021-12T>C NP_001278831.1:n.2021-12T>C
NM_002335.3:c.3764-12T>C NP_002326.2:n.3764-12T>C
XM_005273994.2:c.3764-12T>C XP_005274051.1:n.3764-12T>C
XM_011545029.1:c.3791-12T>C XP_011543331.1:n.3791-12T>C
XM_011545030.1:c.3791-12T>C XP_011543332.1:n.3791-12T>C
XM_011545031.1:c.3791-12T>C XP_011543333.1:n.3791-12T>C
XR_949925.1:n.3806-12T>C
XR_949926.1:n.3806-12T>C
XM_017017735.1:c.2021-12T>C XP_016873224.1:n.2021-12T>C
XM_017017736.1:c.1304-12T>C XP_016873225.1:n.1304-12T>C
XR_949925.2:n.3806-12T>C
XR_949926.2:n.3806-12T>C
NM_002335.4:c.3764-12T>C MANE Select NP_002326.2:n.3764-12T>C
NM_001291902.2:c.2021-12T>C NP_001278831.1:n.2021-12T>C