Canonical Allele Identifier: CA6455316
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1575699
ClinVar RCV Id: RCV002075347
dbSNP Id: rs2302685

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000261349.9:c.3184G>A (LRP6) MANE Select ENSP00000261349.4:p.Val1062Ile
ENST00000261349.8:c.3184G>A (LRP6) ENSP00000261349.4:p.Val1062Ile
ENST00000298566.2:c.*24+9985C>T (BCL2L14) ENSP00000298566.1:n.*24+9985C>T
ENST00000538239.5:c.2778G>A (LRP6)
ENST00000543091.1:c.3184G>A (LRP6) ENSP00000442472.1:p.Val1062Ile
NM_002336.2:c.3184G>A (LRP6) NP_002327.2:p.Val1062Ile
XM_006719078.2:c.3184G>A (LRP6) XP_006719141.1:p.Val1062Ile
XM_011520671.1:c.2731G>A (LRP6) XP_011518973.1:p.Val911Ile
XR_429034.1:n.3317G>A (LRP6)
XR_429035.1:n.3317G>A (LRP6)
XM_006719078.4:c.3184G>A (LRP6) XP_006719141.1:p.Val1062Ile
XM_011520671.3:c.2731G>A (LRP6) XP_011518973.1:p.Val911Ile
XR_002957325.1:n.3317G>A (LRP6)
XR_429035.3:n.3317G>A (LRP6)
NM_002336.3:c.3184G>A (LRP6) MANE Select NP_002327.2:p.Val1062Ile