Canonical Allele Identifier: CA5970152

Gene: LRP4

Linked Data

• ClinVar Variation Id: 304888
• ClinVar RCV Id: RCV000395910 ; RCV000643982
• dbSNP Id: rs143207358
• ExAC: 11:46916245 G / A
• gnomAD v2: 11-46916245-G-A
• gnomAD v3: 11-46894694-G-A
• gnomAD v4: 11-46894694-G-A
• MyVariant Identifiers: chr11:g.46916245G>A (hg19) ; chr11:g.46894694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46894694G>A , CM000673.2:g.46894694G>A	GRCh38
NC_000011.9:g.46916245G>A , CM000673.1:g.46916245G>A	GRCh37
NC_000011.8:g.46872821G>A	NCBI36
NG_021394.1:g.28929C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378623.6:c.1435C>T MANE Select	ENSP00000367888.1:p.Arg479Cys
ENST00000378623.5:c.1435C>T	ENSP00000367888.1:p.Arg479Cys
NM_002334.3:c.1435C>T	NP_002325.2:p.Arg479Cys
XM_011520102.1:c.1648C>T	XP_011518404.1:p.Arg550Cys
XM_011520103.1:c.631C>T	XP_011518405.1:p.Arg211Cys
XM_011520103.2:c.631C>T	XP_011518405.1:p.Arg211Cys
XM_017017734.1:c.1435C>T	XP_016873223.1:p.Arg479Cys
NM_002334.4:c.1435C>T MANE Select	NP_002325.2:p.Arg479Cys