Canonical Allele Identifier: CA5969530

Gene: LRP4

Linked Data

• ClinVar Variation Id: 286738
• ClinVar RCV Id: RCV000394052 ; RCV000393021 ; RCV001087525 ; RCV004543088
• dbSNP Id: rs151234321
• ExAC: 11:46897434 T / C
• gnomAD v2: 11-46897434-T-C
• gnomAD v3: 11-46875883-T-C
• gnomAD v4: 11-46875883-T-C
• MyVariant Identifiers: chr11:g.46897434T>C (hg19) ; chr11:g.46875883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46875883T>C , CM000673.2:g.46875883T>C	GRCh38
NC_000011.9:g.46897434T>C , CM000673.1:g.46897434T>C	GRCh37
NC_000011.8:g.46854010T>C	NCBI36
NG_021394.1:g.47740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.3620A>G MANE Select	ENSP00000367888.1:p.Asn1207Ser
ENST00000378623.5:c.3620A>G	ENSP00000367888.1:p.Asn1207Ser
NM_002334.3:c.3620A>G	NP_002325.2:p.Asn1207Ser
XM_011520102.1:c.3833A>G	XP_011518404.1:p.Asn1278Ser
XM_011520103.1:c.2816A>G	XP_011518405.1:p.Asn939Ser
XM_011520104.1:c.1385A>G	XP_011518406.1:p.Asn462Ser
XM_011520103.2:c.2816A>G	XP_011518405.1:p.Asn939Ser
XM_011520104.2:c.1385A>G	XP_011518406.1:p.Asn462Ser
XM_017017734.1:c.3620A>G	XP_016873223.1:p.Asn1207Ser
NM_002334.4:c.3620A>G MANE Select	NP_002325.2:p.Asn1207Ser