Canonical Allele Identifier: CA381615728
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2478871
ClinVar RCV Id: RCV003198967

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406715A>C , CM000673.2:g.68406715A>C GRCh38
NC_000011.9:g.68174183A>C , CM000673.1:g.68174183A>C GRCh37
NC_000011.8:g.67930759A>C NCBI36
NG_015835.1:g.99076A>C
NG_015835.2:g.99076A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1993A>C MANE Select ENSP00000294304.6:p.Asn665His
ENST00000294304.11:c.1993A>C ENSP00000294304.6:p.Asn665His
ENST00000529993.5:c.*599A>C ENSP00000436652.1:n.*599A>C
NM_001291902.1:c.250A>C NP_001278831.1:p.Asn84His
NM_002335.3:c.1993A>C NP_002326.2:p.Asn665His
XM_005273994.2:c.1993A>C XP_005274051.1:p.Asn665His
XM_011545029.1:c.2020A>C XP_011543331.1:p.Asn674His
XM_011545030.1:c.2020A>C XP_011543332.1:p.Asn674His
XM_011545031.1:c.2020A>C XP_011543333.1:p.Asn674His
XR_949925.1:n.2035A>C
XR_949926.1:n.2035A>C
XM_017017735.1:c.250A>C XP_016873224.1:p.Asn84His
XR_001747874.1:n.2035A>C
XR_949925.2:n.2035A>C
XR_949926.2:n.2035A>C
NM_002335.4:c.1993A>C MANE Select NP_002326.2:p.Asn665His
NM_001291902.2:c.250A>C NP_001278831.1:p.Asn84His