Canonical Allele Identifier: CA2016776099
Community Standard Title: NM_002336.3(LRP6):c.3184G= (p.Val1062=)
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12148964C= , CM000674.2:g.12148964C= GRCh38
NC_000012.11:g.12301898C= , CM000674.1:g.12301898C= GRCh37
NC_000012.10:g.12193165C= NCBI36
NG_016168.1:g.122914G=
NG_016168.2:g.122914G=

Transcript Alleles

HGVS Amino-acid Change
NM_002336.3:c.3184G= (LRP6) MANE Select NP_002327.2:p.Val1062=
ENST00000261349.9:c.3184G= (LRP6) MANE Select ENSP00000261349.4:p.Val1062=
NM_002336.2:c.3184G= (LRP6) NP_002327.2:p.Val1062=
ENST00000261349.8:c.3184G= (LRP6) ENSP00000261349.4:p.Val1062=
ENST00000298566.2:c.*24+9985C= (BCL2L14) ENSP00000298566.1:n.*24+9985C=
ENST00000538239.5:c.2778G= (LRP6)
ENST00000543091.1:c.3184G= (LRP6) ENSP00000442472.1:p.Val1062=
XM_006719078.2:c.3184G= (LRP6) XP_006719141.1:p.Val1062=
XM_006719078.4:c.3184G= (LRP6) XP_006719141.1:p.Val1062=
XM_011520671.1:c.2731G= (LRP6) XP_011518973.1:p.Val911=
XM_011520671.3:c.2731G= (LRP6) XP_011518973.1:p.Val911=
XR_002957325.1:n.3317G= (LRP6)
XR_429034.1:n.3317G= (LRP6)
XR_429035.1:n.3317G= (LRP6)
XR_429035.3:n.3317G= (LRP6)