Canonical Allele Identifier: CA5969762

Gene: LRP4

Linked Data

• ClinVar Variation Id: 535807
• ClinVar RCV Id: RCV000643991 ; RCV001104142 ; RCV003392485 ; RCV003953150
• dbSNP Id: rs145460760
• ExAC: 11:46900813 C / T
• gnomAD v2: 11-46900813-C-T
• gnomAD v3: 11-46879262-C-T
• gnomAD v4: 11-46879262-C-T
• MyVariant Identifiers: chr11:g.46900813C>T (hg19) ; chr11:g.46879262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46879262C>T , CM000673.2:g.46879262C>T	GRCh38
NC_000011.9:g.46900813C>T , CM000673.1:g.46900813C>T	GRCh37
NC_000011.8:g.46857389C>T	NCBI36
NG_021394.1:g.44361G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378623.6:c.2868G>A MANE Select	ENSP00000367888.1:p.Glu956=
ENST00000378623.5:c.2868G>A	ENSP00000367888.1:p.Glu956=
NM_002334.3:c.2868G>A	NP_002325.2:p.Glu956=
XM_011520102.1:c.3081G>A	XP_011518404.1:p.Glu1027=
XM_011520103.1:c.2064G>A	XP_011518405.1:p.Glu688=
XM_011520104.1:c.633G>A	XP_011518406.1:p.Glu211=
XM_011520103.2:c.2064G>A	XP_011518405.1:p.Glu688=
XM_011520104.2:c.633G>A	XP_011518406.1:p.Glu211=
XM_017017734.1:c.2868G>A	XP_016873223.1:p.Glu956=
NM_002334.4:c.2868G>A MANE Select	NP_002325.2:p.Glu956=