Canonical Allele Identifier: CA5969269
Gene: LRP4 HGNC NCBI
LRP4-AS1 HGNC NCBI
COSMIC:
COSM4145740 (not active)
MyVariant.info:
GRCh38 chr11:g.46871557T>C
GRCh37 chr11:g.46893108T>C
Revel Score:
ENST00000378623 (MANE Select) 0.622
gnomAD v2:
11:46893108 T / C
gnomAD v3:
11:46871557 T / C
gnomAD v4:
chr11-46871557-T-C
Joint Max Group AF 0.54188325 (NFE)
Genomes Max Group AF 0.53765019 (NFE)
Exomes Max Group AF 0.54189272 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46871557T>C , CM000673.2:g.46871557T>C GRCh38
NC_000011.9:g.46893108T>C , CM000673.1:g.46893108T>C GRCh37
NC_000011.8:g.46849684T>C NCBI36
NG_021394.1:g.52066A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.4660A>G (LRP4) MANE Select ENSP00000367888.1:p.Ser1554Gly
ENST00000378623.5:c.4660A>G (LRP4) ENSP00000367888.1:p.Ser1554Gly
ENST00000527656.1:n.592A>G (LRP4)
NM_002334.3:c.4660A>G (LRP4) NP_002325.2:p.Ser1554Gly
NR_038909.1:n.198-1517T>C (LRP4-AS1)
XM_011520102.1:c.4873A>G (LRP4) XP_011518404.1:p.Ser1625Gly
XM_011520103.1:c.3856A>G (LRP4) XP_011518405.1:p.Ser1286Gly
XM_011520104.1:c.2425A>G (LRP4) XP_011518406.1:p.Ser809Gly
XM_011520103.2:c.3856A>G (LRP4) XP_011518405.1:p.Ser1286Gly
XM_011520104.2:c.2425A>G (LRP4) XP_011518406.1:p.Ser809Gly
XM_017017734.1:c.4660A>G (LRP4) XP_016873223.1:p.Ser1554Gly
NM_002334.4:c.4660A>G (LRP4) MANE Select NP_002325.2:p.Ser1554Gly
Search 100 bp 5'
Search 100 bp 3'