Canonical Allele Identifier: CA10630983
Community Standard Title: NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp)
Gene: LRP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46876530G>A , CM000673.2:g.46876530G>A GRCh38
NC_000011.9:g.46898081G>A , CM000673.1:g.46898081G>A GRCh37
NC_000011.8:g.46854657G>A NCBI36
NG_021394.1:g.47093C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002334.4:c.3472C>T MANE Select NP_002325.2:p.Arg1158Trp
ENST00000378623.6:c.3472C>T MANE Select ENSP00000367888.1:p.Arg1158Trp
NM_002334.3:c.3472C>T NP_002325.2:p.Arg1158Trp
ENST00000378623.5:c.3472C>T ENSP00000367888.1:p.Arg1158Trp
XM_011520102.1:c.3685C>T XP_011518404.1:p.Arg1229Trp
XM_011520103.1:c.2668C>T XP_011518405.1:p.Arg890Trp
XM_011520103.2:c.2668C>T XP_011518405.1:p.Arg890Trp
XM_011520104.1:c.1237C>T XP_011518406.1:p.Arg413Trp
XM_011520104.2:c.1237C>T XP_011518406.1:p.Arg413Trp
XM_017017734.1:c.3472C>T XP_016873223.1:p.Arg1158Trp