Canonical Allele Identifier: CA117685

Gene: LRP4

Linked Data

• ClinVar Variation Id: 5687
• ClinVar RCV Id: RCV000006041 ; RCV002496277
• dbSNP Id: rs267607222
• gnomAD v2: 11-46921435-C-T
• gnomAD v4: 11-46899884-C-T
• MyVariant Identifiers: chr11:g.46921435C>T (hg19) ; chr11:g.46899884C>T (hg38)
• PubMed: PMID:12868467 ; PMID:20381006

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46899884C>T , CM000673.2:g.46899884C>T	GRCh38
NC_000011.9:g.46921435C>T , CM000673.1:g.46921435C>T	GRCh37
NC_000011.8:g.46878011C>T	NCBI36
NG_021394.1:g.23739G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.409G>A MANE Select	ENSP00000367888.1:p.Asp137Asn
ENST00000378623.5:c.409G>A	ENSP00000367888.1:p.Asp137Asn
ENST00000534404.1:c.262G>A	ENSP00000434763.1:p.Asp88Asn
NM_002334.3:c.409G>A	NP_002325.2:p.Asp137Asn
XM_011520102.1:c.622G>A	XP_011518404.1:p.Asp208Asn
XM_017017734.1:c.409G>A	XP_016873223.1:p.Asp137Asn
NM_002334.4:c.409G>A MANE Select	NP_002325.2:p.Asp137Asn