Canonical Allele Identifier: CA358271

Gene: LRP6 BCL2L14

Linked Data

• ClinVar Variation Id: 225152
• ClinVar RCV Id: RCV001782697
• dbSNP Id: rs866789963
• MyVariant Identifiers: chr12:g.12150835C>T (hg38)
• PubMed: PMID:22813217 ; PMID:26963285

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12150835C>T , CM000674.2:g.12150835C>T	GRCh38
NG_016168.1:g.121043G>A
NG_016168.2:g.121043G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.2994+1G>A (LRP6) MANE Select	ENSP00000261349.4:n.2994+1G>A
ENST00000261349.8:c.2994+1G>A (LRP6)	ENSP00000261349.4:n.2994+1G>A
ENST00000298566.2:c.*24+11856C>T (BCL2L14)	ENSP00000298566.1:n.*24+11856C>T
ENST00000538239.5:c.2588+1G>A (LRP6)
ENST00000543091.1:c.2994+1G>A (LRP6)	ENSP00000442472.1:n.2994+1G>A
NM_002336.2:c.2994+1G>A (LRP6)	NP_002327.2:n.2994+1G>A
XM_006719078.2:c.2994+1G>A (LRP6)	XP_006719141.1:n.2994+1G>A
XM_011520671.1:c.2541+1G>A (LRP6)	XP_011518973.1:n.2541+1G>A
XR_429034.1:n.3127+1G>A (LRP6)
XR_429035.1:n.3127+1G>A (LRP6)
XM_006719078.4:c.2994+1G>A (LRP6)	XP_006719141.1:n.2994+1G>A
XM_011520671.3:c.2541+1G>A (LRP6)	XP_011518973.1:n.2541+1G>A
XR_002957325.1:n.3127+1G>A (LRP6)
XR_429035.3:n.3127+1G>A (LRP6)
NM_002336.3:c.2994+1G>A (LRP6) MANE Select	NP_002327.2:n.2994+1G>A