Canonical Allele Identifier: CA5969707

Gene: LRP4

Linked Data

• ClinVar Variation Id: 304873
• ClinVar RCV Id: RCV000361080 ; RCV001088254 ; RCV000730173 ; RCV004537716
• dbSNP Id: rs61742871
• ExAC: 11:46900530 T / C
• gnomAD v2: 11-46900530-T-C
• gnomAD v3: 11-46878979-T-C
• gnomAD v4: 11-46878979-T-C
• MyVariant Identifiers: chr11:g.46900530T>C (hg19) ; chr11:g.46878979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46878979T>C , CM000673.2:g.46878979T>C	GRCh38
NC_000011.9:g.46900530T>C , CM000673.1:g.46900530T>C	GRCh37
NC_000011.8:g.46857106T>C	NCBI36
NG_021394.1:g.44644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.3064A>G MANE Select	ENSP00000367888.1:p.Asn1022Asp
ENST00000378623.5:c.3064A>G	ENSP00000367888.1:p.Asn1022Asp
NM_002334.3:c.3064A>G	NP_002325.2:p.Asn1022Asp
XM_011520102.1:c.3277A>G	XP_011518404.1:p.Asn1093Asp
XM_011520103.1:c.2260A>G	XP_011518405.1:p.Asn754Asp
XM_011520104.1:c.829A>G	XP_011518406.1:p.Asn277Asp
XM_011520103.2:c.2260A>G	XP_011518405.1:p.Asn754Asp
XM_011520104.2:c.829A>G	XP_011518406.1:p.Asn277Asp
XM_017017734.1:c.3064A>G	XP_016873223.1:p.Asn1022Asp
NM_002334.4:c.3064A>G MANE Select	NP_002325.2:p.Asn1022Asp