Canonical Allele Identifier: CA129194

Gene: LRP4

Linked Data

• ClinVar Variation Id: 30410
• ClinVar RCV Id: RCV000023363 ; RCV000490108 ; RCV000800068
• dbSNP Id: rs387906883
• gnomAD v2: 11-46897497-C-G
• gnomAD v3: 11-46875946-C-G
• gnomAD v4: 11-46875946-C-G
• MyVariant Identifiers: chr11:g.46897497C>G (hg19) ; chr11:g.46875946C>G (hg38)
• PubMed: PMID:7891385 ; PMID:21471202 ; PMID:24234652

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46875946C>G , CM000673.2:g.46875946C>G	GRCh38
NC_000011.9:g.46897497C>G , CM000673.1:g.46897497C>G	GRCh37
NC_000011.8:g.46854073C>G	NCBI36
NG_021394.1:g.47677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.3557G>C MANE Select	ENSP00000367888.1:p.Trp1186Ser
ENST00000378623.5:c.3557G>C	ENSP00000367888.1:p.Trp1186Ser
NM_002334.3:c.3557G>C	NP_002325.2:p.Trp1186Ser
XM_011520102.1:c.3770G>C	XP_011518404.1:p.Trp1257Ser
XM_011520103.1:c.2753G>C	XP_011518405.1:p.Trp918Ser
XM_011520104.1:c.1322G>C	XP_011518406.1:p.Trp441Ser
XM_011520103.2:c.2753G>C	XP_011518405.1:p.Trp918Ser
XM_011520104.2:c.1322G>C	XP_011518406.1:p.Trp441Ser
XM_017017734.1:c.3557G>C	XP_016873223.1:p.Trp1186Ser
NM_002334.4:c.3557G>C MANE Select	NP_002325.2:p.Trp1186Ser