Canonical Allele Identifier: CA5969212
Gene: LRP4 HGNC NCBI
LRP4-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46868653G>A
GRCh37 chr11:g.46890204G>A
Revel Score:
ENST00000378623 (MANE Select) 0.281
gnomAD v2:
11:46890204 G / A
gnomAD v3:
11:46868653 G / A
gnomAD v4:
chr11-46868653-G-A
Joint Max Group AF 0.00041518 (NFE)
Genomes Max Group AF 0.00004764 (NFE)
Exomes Max Group AF 0.00043522 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46868653G>A , CM000673.2:g.46868653G>A GRCh38
NC_000011.9:g.46890204G>A , CM000673.1:g.46890204G>A GRCh37
NC_000011.8:g.46846780G>A NCBI36
NG_021394.1:g.54970C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.4898C>T (LRP4) MANE Select ENSP00000367888.1:p.Ser1633Leu
ENST00000378623.5:c.4898C>T (LRP4) ENSP00000367888.1:p.Ser1633Leu
NM_002334.3:c.4898C>T (LRP4) NP_002325.2:p.Ser1633Leu
NR_038909.1:n.198-4421G>A (LRP4-AS1)
XM_011520102.1:c.5111C>T (LRP4) XP_011518404.1:p.Ser1704Leu
XM_011520103.1:c.4094C>T (LRP4) XP_011518405.1:p.Ser1365Leu
XM_011520104.1:c.2663C>T (LRP4) XP_011518406.1:p.Ser888Leu
XM_011520103.2:c.4094C>T (LRP4) XP_011518405.1:p.Ser1365Leu
XM_011520104.2:c.2663C>T (LRP4) XP_011518406.1:p.Ser888Leu
XM_017017734.1:c.4898C>T (LRP4) XP_016873223.1:p.Ser1633Leu
NM_002334.4:c.4898C>T (LRP4) MANE Select NP_002325.2:p.Ser1633Leu
Search 100 bp 5'
Search 100 bp 3'