Canonical Allele Identifier: CA6455106

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs777875356
• ExAC: 12:12284925 G / A
• gnomAD v2: 12-12284925-G-A
• MyVariant Identifiers: chr12:g.12284925G>A (hg19) ; chr12:g.12131991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12131991G>A , CM000674.2:g.12131991G>A	GRCh38
NC_000012.11:g.12284925G>A , CM000674.1:g.12284925G>A	GRCh37
NC_000012.10:g.12176192G>A	NCBI36
NG_016168.1:g.139887C>T
NG_016168.2:g.139887C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.3800C>T (LRP6) MANE Select	ENSP00000261349.4:p.Ala1267Val
ENST00000261349.8:c.3800C>T (LRP6)	ENSP00000261349.4:p.Ala1267Val
ENST00000298566.2:c.712-6845G>A (BCL2L14)	ENSP00000298566.1:n.712-6845G>A
ENST00000538239.5:c.3394C>T (LRP6)
ENST00000540415.1:n.121C>T (LRP6)
ENST00000543091.1:c.3734-69C>T (LRP6)	ENSP00000442472.1:n.3734-69C>T
NM_002336.2:c.3800C>T (LRP6)	NP_002327.2:p.Ala1267Val
XM_006719078.2:c.3800C>T (LRP6)	XP_006719141.1:p.Ala1267Val
XM_011520671.1:c.3347C>T (LRP6)	XP_011518973.1:p.Ala1116Val
XR_429034.1:n.3933C>T (LRP6)
XR_429035.1:n.3933C>T (LRP6)
XM_006719078.4:c.3800C>T (LRP6)	XP_006719141.1:p.Ala1267Val
XM_011520671.3:c.3347C>T (LRP6)	XP_011518973.1:p.Ala1116Val
XR_002957325.1:n.3933C>T (LRP6)
XR_429035.3:n.3933C>T (LRP6)
NM_002336.3:c.3800C>T (LRP6) MANE Select	NP_002327.2:p.Ala1267Val