Canonical Allele Identifier: CA224268235
Gene: LRP5 HGNC NCBI

Linked Data

dbSNP Id: rs80358314
MyVariant Identifiers: chr11:g.68174040T>G (hg19) chr11:g.68406572T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406572T>G , CM000673.2:g.68406572T>G GRCh38
NC_000011.9:g.68174040T>G , CM000673.1:g.68174040T>G GRCh37
NC_000011.8:g.67930616T>G NCBI36
NG_015835.1:g.98933T>G
NG_015835.2:g.98933T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.1850T>G MANE Select ENSP00000294304.6:p.Phe617Cys
ENST00000294304.11:c.1850T>G ENSP00000294304.6:p.Phe617Cys
ENST00000529993.5:c.*456T>G ENSP00000436652.1:n.*456T>G
NM_001291902.1:c.107T>G NP_001278831.1:p.Phe36Cys
NM_002335.3:c.1850T>G NP_002326.2:p.Phe617Cys
XM_005273994.2:c.1850T>G XP_005274051.1:p.Phe617Cys
XM_011545029.1:c.1877T>G XP_011543331.1:p.Phe626Cys
XM_011545030.1:c.1877T>G XP_011543332.1:p.Phe626Cys
XM_011545031.1:c.1877T>G XP_011543333.1:p.Phe626Cys
XR_949925.1:n.1892T>G
XR_949926.1:n.1892T>G
XM_017017735.1:c.107T>G XP_016873224.1:p.Phe36Cys
XR_001747874.1:n.1892T>G
XR_949925.2:n.1892T>G
XR_949926.2:n.1892T>G
NM_002335.4:c.1850T>G MANE Select NP_002326.2:p.Phe617Cys
NM_001291902.2:c.107T>G NP_001278831.1:p.Phe36Cys
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