Canonical Allele Identifier: CA13483807
Community Standard Title: NM_002334.4(LRP4):c.3536+230A>G
Gene: LRP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46876236T>C , CM000673.2:g.46876236T>C GRCh38
NC_000011.9:g.46897787T>C , CM000673.1:g.46897787T>C GRCh37
NC_000011.8:g.46854363T>C NCBI36
NG_021394.1:g.47387A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002334.4:c.3536+230A>G MANE Select NP_002325.2:n.3536+230A>G
ENST00000378623.6:c.3536+230A>G MANE Select ENSP00000367888.1:n.3536+230A>G
NM_002334.3:c.3536+230A>G NP_002325.2:n.3536+230A>G
ENST00000378623.5:c.3536+230A>G ENSP00000367888.1:n.3536+230A>G
XM_011520102.1:c.3749+230A>G XP_011518404.1:n.3749+230A>G
XM_011520103.1:c.2732+230A>G XP_011518405.1:n.2732+230A>G
XM_011520103.2:c.2732+230A>G XP_011518405.1:n.2732+230A>G
XM_011520104.1:c.1301+230A>G XP_011518406.1:n.1301+230A>G
XM_011520104.2:c.1301+230A>G XP_011518406.1:n.1301+230A>G
XM_017017734.1:c.3536+230A>G XP_016873223.1:n.3536+230A>G