Canonical Allele Identifier: CA358763

Gene: LRP6 BCL2L14

Linked Data

• ClinVar Variation Id: 225153
• ClinVar RCV Id: RCV001782698
• dbSNP Id: rs869320640
• MyVariant Identifiers: chr12:g.12279857T>C (hg19) ; chr12:g.12126923T>C (hg38)
• PubMed: PMID:22813217 ; PMID:26963285

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12126923T>C , CM000674.2:g.12126923T>C	GRCh38
NC_000012.11:g.12279857T>C , CM000674.1:g.12279857T>C	GRCh37
NC_000012.10:g.12171124T>C	NCBI36
NG_016168.1:g.144955A>G
NG_016168.2:g.144955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.4082-2A>G (LRP6) MANE Select	ENSP00000261349.4:n.4082-2A>G
ENST00000261349.8:c.4082-2A>G (LRP6)	ENSP00000261349.4:n.4082-2A>G
ENST00000298566.2:c.711+11596T>C (BCL2L14)	ENSP00000298566.1:n.711+11596T>C
ENST00000538239.5:c.3676-2A>G (LRP6)
ENST00000540415.1:n.403-1491A>G (LRP6)
ENST00000540527.5:c.122-2261A>G (LRP6)	ENSP00000443239.1:n.122-2261A>G
ENST00000543091.1:c.3947-2A>G (LRP6)	ENSP00000442472.1:n.3947-2A>G
NM_002336.2:c.4082-2A>G (LRP6)	NP_002327.2:n.4082-2A>G
XM_006719078.2:c.4082-2A>G (LRP6)	XP_006719141.1:n.4082-2A>G
XM_011520671.1:c.3629-2A>G (LRP6)	XP_011518973.1:n.3629-2A>G
XR_429034.1:n.4215-2A>G (LRP6)
XR_429035.1:n.4215-2A>G (LRP6)
XM_006719078.4:c.4082-2A>G (LRP6)	XP_006719141.1:n.4082-2A>G
XM_011520671.3:c.3629-2A>G (LRP6)	XP_011518973.1:n.3629-2A>G
XR_002957325.1:n.4215-2A>G (LRP6)
XR_429035.3:n.4215-2A>G (LRP6)
NM_002336.3:c.4082-2A>G (LRP6) MANE Select	NP_002327.2:n.4082-2A>G