Canonical Allele Identifier: CA381615743
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406721G>T , CM000673.2:g.68406721G>T GRCh38
NC_000011.9:g.68174189G>T , CM000673.1:g.68174189G>T GRCh37
NC_000011.8:g.67930765G>T NCBI36
NG_015835.1:g.99082G>T
NG_015835.2:g.99082G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1999G>T MANE Select ENSP00000294304.6:p.Val667Leu
ENST00000294304.11:c.1999G>T ENSP00000294304.6:p.Val667Leu
ENST00000529993.5:c.*605G>T ENSP00000436652.1:n.*605G>T
NM_001291902.1:c.256G>T NP_001278831.1:p.Val86Leu
NM_002335.3:c.1999G>T NP_002326.2:p.Val667Leu
XM_005273994.2:c.1999G>T XP_005274051.1:p.Val667Leu
XM_011545029.1:c.2026G>T XP_011543331.1:p.Val676Leu
XM_011545030.1:c.2026G>T XP_011543332.1:p.Val676Leu
XM_011545031.1:c.2026G>T XP_011543333.1:p.Val676Leu
XR_949925.1:n.2041G>T
XR_949926.1:n.2041G>T
XM_017017735.1:c.256G>T XP_016873224.1:p.Val86Leu
XR_001747874.1:n.2041G>T
XR_949925.2:n.2041G>T
XR_949926.2:n.2041G>T
NM_002335.4:c.1999G>T MANE Select NP_002326.2:p.Val667Leu
NM_001291902.2:c.256G>T NP_001278831.1:p.Val86Leu