Canonical Allele Identifier: CA199516

Gene: LRP4

Linked Data

• ClinVar Variation Id: 189821
• ClinVar RCV Id: RCV000170321 ; RCV000691410
• dbSNP Id: rs746136135
• ExAC: 11:46897102 C / T
• gnomAD v2: 11-46897102-C-T
• gnomAD v4: 11-46875551-C-T
• MyVariant Identifiers: chr11:g.46897102C>T (hg19) ; chr11:g.46875551C>T (hg38)
• PubMed: PMID:24234652

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46875551C>T , CM000673.2:g.46875551C>T	GRCh38
NC_000011.9:g.46897102C>T , CM000673.1:g.46897102C>T	GRCh37
NC_000011.8:g.46853678C>T	NCBI36
NG_021394.1:g.48072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.3830G>A MANE Select	ENSP00000367888.1:p.Arg1277His
ENST00000378623.5:c.3830G>A	ENSP00000367888.1:p.Arg1277His
NM_002334.3:c.3830G>A	NP_002325.2:p.Arg1277His
XM_011520102.1:c.4043G>A	XP_011518404.1:p.Arg1348His
XM_011520103.1:c.3026G>A	XP_011518405.1:p.Arg1009His
XM_011520104.1:c.1595G>A	XP_011518406.1:p.Arg532His
XM_011520103.2:c.3026G>A	XP_011518405.1:p.Arg1009His
XM_011520104.2:c.1595G>A	XP_011518406.1:p.Arg532His
XM_017017734.1:c.3830G>A	XP_016873223.1:p.Arg1277His
NM_002334.4:c.3830G>A MANE Select	NP_002325.2:p.Arg1277His