Canonical Allele Identifier: CA5969946
Community Standard Title: NM_002334.4(LRP4):c.2216-13G>A
Gene: LRP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46886546C>T , CM000673.2:g.46886546C>T GRCh38
NC_000011.9:g.46908097C>T , CM000673.1:g.46908097C>T GRCh37
NC_000011.8:g.46864673C>T NCBI36
NG_021394.1:g.37077G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002334.4:c.2216-13G>A MANE Select NP_002325.2:n.2216-13G>A
ENST00000378623.6:c.2216-13G>A MANE Select ENSP00000367888.1:n.2216-13G>A
NM_002334.3:c.2216-13G>A NP_002325.2:n.2216-13G>A
ENST00000378623.5:c.2216-13G>A ENSP00000367888.1:n.2216-13G>A
ENST00000529921.1:n.278-44G>A
XM_011520102.1:c.2429-13G>A XP_011518404.1:n.2429-13G>A
XM_011520103.1:c.1412-13G>A XP_011518405.1:n.1412-13G>A
XM_011520103.2:c.1412-13G>A XP_011518405.1:n.1412-13G>A
XM_011520104.1:c.12-44G>A XP_011518406.1:n.12-44G>A
XM_011520104.2:c.12-44G>A XP_011518406.1:n.12-44G>A
XM_017017734.1:c.2216-13G>A XP_016873223.1:n.2216-13G>A