Canonical Allele Identifier: CA224273006
Gene: LRP5 HGNC NCBI

Linked Data

dbSNP Id: rs80358315
gnomAD v3: 11-68410124-C-G
gnomAD v4: 11-68410124-C-G
MyVariant Identifiers: chr11:g.68177592C>G (hg19) chr11:g.68410124C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410124C>G , CM000673.2:g.68410124C>G GRCh38
NC_000011.9:g.68177592C>G , CM000673.1:g.68177592C>G GRCh37
NC_000011.8:g.67934168C>G NCBI36
NG_015835.1:g.102485C>G
NG_015835.2:g.102485C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.2302C>G MANE Select ENSP00000294304.6:p.Leu768Val
ENST00000294304.11:c.2302C>G ENSP00000294304.6:p.Leu768Val
ENST00000528714.1:n.96C>G
ENST00000529993.5:c.*908C>G ENSP00000436652.1:n.*908C>G
NM_001291902.1:c.559C>G NP_001278831.1:p.Leu187Val
NM_002335.3:c.2302C>G NP_002326.2:p.Leu768Val
XM_005273994.2:c.2302C>G XP_005274051.1:p.Leu768Val
XM_011545029.1:c.2329C>G XP_011543331.1:p.Leu777Val
XM_011545030.1:c.2329C>G XP_011543332.1:p.Leu777Val
XM_011545031.1:c.2329C>G XP_011543333.1:p.Leu777Val
XR_949925.1:n.2344C>G
XR_949926.1:n.2344C>G
XM_017017735.1:c.559C>G XP_016873224.1:p.Leu187Val
XR_001747874.1:n.2344C>G
XR_949925.2:n.2344C>G
XR_949926.2:n.2344C>G
NM_002335.4:c.2302C>G MANE Select NP_002326.2:p.Leu768Val
NM_001291902.2:c.559C>G NP_001278831.1:p.Leu187Val
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