Canonical Allele Identifier: CA221629062
Community Standard Title: NM_002334.4(LRP4):c.3277+140T>C
Gene: LRP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46877059A>G , CM000673.2:g.46877059A>G GRCh38
NC_000011.9:g.46898610A>G , CM000673.1:g.46898610A>G GRCh37
NC_000011.8:g.46855186A>G NCBI36
NG_021394.1:g.46564T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002334.4:c.3277+140T>C MANE Select NP_002325.2:n.3277+140T>C
ENST00000378623.6:c.3277+140T>C MANE Select ENSP00000367888.1:n.3277+140T>C
NM_002334.3:c.3277+140T>C NP_002325.2:n.3277+140T>C
ENST00000378623.5:c.3277+140T>C ENSP00000367888.1:n.3277+140T>C
XM_011520102.1:c.3490+140T>C XP_011518404.1:n.3490+140T>C
XM_011520103.1:c.2473+140T>C XP_011518405.1:n.2473+140T>C
XM_011520103.2:c.2473+140T>C XP_011518405.1:n.2473+140T>C
XM_011520104.1:c.1042+140T>C XP_011518406.1:n.1042+140T>C
XM_011520104.2:c.1042+140T>C XP_011518406.1:n.1042+140T>C
XM_017017734.1:c.3277+140T>C XP_016873223.1:n.3277+140T>C