Canonical Allele Identifier: CA16044354
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 375570
ClinVar RCV Id: RCV000417056
dbSNP Id: rs1057519575
MyVariant Identifiers: chr11:g.68213902A>G (hg19) chr11:g.68446434A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68446434A>G , CM000673.2:g.68446434A>G GRCh38
NC_000011.9:g.68213902A>G , CM000673.1:g.68213902A>G GRCh37
NC_000011.8:g.67970478A>G NCBI36
NG_015835.1:g.138795A>G
NG_015835.2:g.138795A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.4489-2A>G MANE Select ENSP00000294304.6:n.4489-2A>G
ENST00000294304.11:c.4489-2A>G ENSP00000294304.6:n.4489-2A>G
ENST00000529702.1:c.159-2A>G
ENST00000529993.5:c.*3095-2A>G ENSP00000436652.1:n.*3095-2A>G
NM_001291902.1:c.2746-2A>G NP_001278831.1:n.2746-2A>G
NM_002335.3:c.4489-2A>G NP_002326.2:n.4489-2A>G
XM_005273994.2:c.4603-2A>G XP_005274051.1:n.4603-2A>G
XM_011545029.1:c.4630-2A>G XP_011543331.1:n.4630-2A>G
XM_011545030.1:c.4516-2A>G XP_011543332.1:n.4516-2A>G
XM_011545031.1:c.4646-2A>G XP_011543333.1:n.4646-2A>G
XR_949925.1:n.4645-2A>G
XR_949926.1:n.4661-2A>G
XM_017017735.1:c.2860-2A>G XP_016873224.1:n.2860-2A>G
XM_017017736.1:c.2143-2A>G XP_016873225.1:n.2143-2A>G
XR_949925.2:n.4645-2A>G
XR_949926.2:n.4661-2A>G
NM_002335.4:c.4489-2A>G MANE Select NP_002326.2:n.4489-2A>G
NM_001291902.2:c.2746-2A>G NP_001278831.1:n.2746-2A>G
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