Canonical Allele Identifier: CA5969432
Gene: LRP4 HGNC NCBI
COSMIC:
COSM4400956 (not active)
MyVariant.info:
GRCh38 chr11:g.46875085G>A
GRCh37 chr11:g.46896636G>A
Revel Score:
ENST00000378623 (MANE Select) 0.219
gnomAD v2:
11:46896636 G / A
gnomAD v3:
11:46875085 G / A
gnomAD v4:
chr11-46875085-G-A
Joint Max Group AF 0.00092066 (NFE)
Genomes Max Group AF 0.00062471 (NFE)
Exomes Max Group AF 0.00092927 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46875085G>A , CM000673.2:g.46875085G>A GRCh38
NC_000011.9:g.46896636G>A , CM000673.1:g.46896636G>A GRCh37
NC_000011.8:g.46853212G>A NCBI36
NG_021394.1:g.48538C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.3944C>T MANE Select ENSP00000367888.1:p.Ser1315Leu
ENST00000378623.5:c.3944C>T ENSP00000367888.1:p.Ser1315Leu
NM_002334.3:c.3944C>T NP_002325.2:p.Ser1315Leu
XM_011520102.1:c.4157C>T XP_011518404.1:p.Ser1386Leu
XM_011520103.1:c.3140C>T XP_011518405.1:p.Ser1047Leu
XM_011520104.1:c.1709C>T XP_011518406.1:p.Ser570Leu
XM_011520103.2:c.3140C>T XP_011518405.1:p.Ser1047Leu
XM_011520104.2:c.1709C>T XP_011518406.1:p.Ser570Leu
XM_017017734.1:c.3944C>T XP_016873223.1:p.Ser1315Leu
NM_002334.4:c.3944C>T MANE Select NP_002325.2:p.Ser1315Leu
Search 100 bp 5'
Search 100 bp 3'