Canonical Allele Identifier: CA5970549

Gene: LRP4

Linked Data

• ClinVar Variation Id: 428601
• ClinVar RCV Id: RCV000578727 ; RCV002496888
• dbSNP Id: rs780336679
• ExAC: 11:46921812 C / T
• gnomAD v2: 11-46921812-C-T
• gnomAD v3: 11-46900261-C-T
• gnomAD v4: 11-46900261-C-T
• MyVariant Identifiers: chr11:g.46921812C>T (hg19) ; chr11:g.46900261C>T (hg38)
• PubMed: PMID:28559208

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46900261C>T , CM000673.2:g.46900261C>T	GRCh38
NC_000011.9:g.46921812C>T , CM000673.1:g.46921812C>T	GRCh37
NC_000011.8:g.46878388C>T	NCBI36
NG_021394.1:g.23362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.316+1G>A MANE Select	ENSP00000367888.1:n.316+1G>A
ENST00000378623.5:c.316+1G>A	ENSP00000367888.1:n.316+1G>A
ENST00000534404.1:c.169+1G>A	ENSP00000434763.1:n.169+1G>A
NM_002334.3:c.316+1G>A	NP_002325.2:n.316+1G>A
XM_011520102.1:c.529+1G>A	XP_011518404.1:n.529+1G>A
XM_017017734.1:c.316+1G>A	XP_016873223.1:n.316+1G>A
NM_002334.4:c.316+1G>A MANE Select	NP_002325.2:n.316+1G>A