Canonical Allele Identifier: CA6149851
Gene: LRP5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68423568G>T
GRCh37 chr11:g.68191036G>T
Revel Score:
ENST00000294304 (MANE Select) 0.701
gnomAD v2:
11:68191036 G / T
gnomAD v3:
11:68423568 G / T
gnomAD v4:
chr11-68423568-G-T
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV002029343
RCV002498051
ClinVar Variation:
1514510
dbSNP:
61889560
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68423568G>T , CM000673.2:g.68423568G>T GRCh38
NC_000011.9:g.68191036G>T , CM000673.1:g.68191036G>T GRCh37
NC_000011.8:g.67947612G>T NCBI36
NG_015835.1:g.115929G>T
NG_015835.2:g.115929G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.3107G>T MANE Select ENSP00000294304.6:p.Arg1036Leu
ENST00000294304.11:c.3107G>T ENSP00000294304.6:p.Arg1036Leu
ENST00000529993.5:c.*1713G>T ENSP00000436652.1:n.*1713G>T
NM_001291902.1:c.1364G>T NP_001278831.1:p.Arg455Leu
NM_002335.3:c.3107G>T NP_002326.2:p.Arg1036Leu
XM_005273994.2:c.3107G>T XP_005274051.1:p.Arg1036Leu
XM_011545029.1:c.3134G>T XP_011543331.1:p.Arg1045Leu
XM_011545030.1:c.3134G>T XP_011543332.1:p.Arg1045Leu
XM_011545031.1:c.3134G>T XP_011543333.1:p.Arg1045Leu
XR_949925.1:n.3149G>T
XR_949926.1:n.3149G>T
XM_017017735.1:c.1364G>T XP_016873224.1:p.Arg455Leu
XM_017017736.1:c.647G>T XP_016873225.1:p.Arg216Leu
XR_949925.2:n.3149G>T
XR_949926.2:n.3149G>T
NM_002335.4:c.3107G>T MANE Select NP_002326.2:p.Arg1036Leu
NM_001291902.2:c.1364G>T NP_001278831.1:p.Arg455Leu
Search 100 bp 5'
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