Canonical Allele Identifier: CA380274050
Community Standard Title: NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln)
Gene: LRP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46876493C>T , CM000673.2:g.46876493C>T GRCh38
NC_000011.9:g.46898044C>T , CM000673.1:g.46898044C>T GRCh37
NC_000011.8:g.46854620C>T NCBI36
NG_021394.1:g.47130G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002334.4:c.3509G>A MANE Select NP_002325.2:p.Arg1170Gln
ENST00000378623.6:c.3509G>A MANE Select ENSP00000367888.1:p.Arg1170Gln
NM_002334.3:c.3509G>A NP_002325.2:p.Arg1170Gln
ENST00000378623.5:c.3509G>A ENSP00000367888.1:p.Arg1170Gln
XM_011520102.1:c.3722G>A XP_011518404.1:p.Arg1241Gln
XM_011520103.1:c.2705G>A XP_011518405.1:p.Arg902Gln
XM_011520103.2:c.2705G>A XP_011518405.1:p.Arg902Gln
XM_011520104.1:c.1274G>A XP_011518406.1:p.Arg425Gln
XM_011520104.2:c.1274G>A XP_011518406.1:p.Arg425Gln
XM_017017734.1:c.3509G>A XP_016873223.1:p.Arg1170Gln