Canonical Allele Identifier: CA117687

Gene: LRP4

Linked Data

• ClinVar Variation Id: 5691
• ClinVar RCV Id: RCV000006045
• dbSNP Id: rs267607224
• gnomAD v4: 11-46894784-C-T
• MyVariant Identifiers: chr11:g.46916335C>T (hg19) ; chr11:g.46894784C>T (hg38)
• PubMed: PMID:14577675 ; PMID:20381006

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46894784C>T , CM000673.2:g.46894784C>T	GRCh38
NC_000011.9:g.46916335C>T , CM000673.1:g.46916335C>T	GRCh37
NC_000011.8:g.46872911C>T	NCBI36
NG_021394.1:g.28839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.1345G>A MANE Select	ENSP00000367888.1:p.Asp449Asn
ENST00000378623.5:c.1345G>A	ENSP00000367888.1:p.Asp449Asn
NM_002334.3:c.1345G>A	NP_002325.2:p.Asp449Asn
XM_011520102.1:c.1558G>A	XP_011518404.1:p.Asp520Asn
XM_011520103.1:c.541G>A	XP_011518405.1:p.Asp181Asn
XM_011520103.2:c.541G>A	XP_011518405.1:p.Asp181Asn
XM_017017734.1:c.1345G>A	XP_016873223.1:p.Asp449Asn
NM_002334.4:c.1345G>A MANE Select	NP_002325.2:p.Asp449Asn