Canonical Allele Identifier: CA383943852

Gene: LRP6 BCL2L14

Linked Data

• ClinVar Variation Id: 523827
• ClinVar RCV Id: RCV000627298
• dbSNP Id: rs1555108264
• MyVariant Identifiers: chr12:g.12311885C>T (hg19) ; chr12:g.12158951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12158951C>T , CM000674.2:g.12158951C>T	GRCh38
NC_000012.11:g.12311885C>T , CM000674.1:g.12311885C>T	GRCh37
NC_000012.10:g.12203152C>T	NCBI36
NG_016168.1:g.112927G>A
NG_016168.2:g.112927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2669G>A (LRP6) MANE Select	ENSP00000261349.4:p.Trp890Ter
ENST00000261349.8:c.2669G>A (LRP6)	ENSP00000261349.4:p.Trp890Ter
ENST00000298566.2:c.*24+19972C>T (BCL2L14)	ENSP00000298566.1:n.*24+19972C>T
ENST00000538239.5:c.2263G>A (LRP6)
ENST00000543091.1:c.2669G>A (LRP6)	ENSP00000442472.1:p.Trp890Ter
NM_002336.2:c.2669G>A (LRP6)	NP_002327.2:p.Trp890Ter
XM_006719078.2:c.2669G>A (LRP6)	XP_006719141.1:p.Trp890Ter
XM_011520671.1:c.2216G>A (LRP6)	XP_011518973.1:p.Trp739Ter
XR_429034.1:n.2802G>A (LRP6)
XR_429035.1:n.2802G>A (LRP6)
XM_006719078.4:c.2669G>A (LRP6)	XP_006719141.1:p.Trp890Ter
XM_011520671.3:c.2216G>A (LRP6)	XP_011518973.1:p.Trp739Ter
XR_002957325.1:n.2802G>A (LRP6)
XR_429035.3:n.2802G>A (LRP6)
NM_002336.3:c.2669G>A (LRP6) MANE Select	NP_002327.2:p.Trp890Ter