Canonical Allele Identifier: CA383951525

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs1212767437
• gnomAD v2: 12-12284843-C-A
• MyVariant Identifiers: chr12:g.12284843C>A (hg19) ; chr12:g.12131909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12131909C>A , CM000674.2:g.12131909C>A	GRCh38
NC_000012.11:g.12284843C>A , CM000674.1:g.12284843C>A	GRCh37
NC_000012.10:g.12176110C>A	NCBI36
NG_016168.1:g.139969G>T
NG_016168.2:g.139969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.3882G>T (LRP6) MANE Select	ENSP00000261349.4:p.Gln1294His
ENST00000261349.8:c.3882G>T (LRP6)	ENSP00000261349.4:p.Gln1294His
ENST00000298566.2:c.712-6927C>A (BCL2L14)	ENSP00000298566.1:n.712-6927C>A
ENST00000538239.5:c.3476G>T (LRP6)
ENST00000540415.1:n.203G>T (LRP6)
ENST00000543091.1:c.3747G>T (LRP6)	ENSP00000442472.1:p.Gln1249His
NM_002336.2:c.3882G>T (LRP6)	NP_002327.2:p.Gln1294His
XM_006719078.2:c.3882G>T (LRP6)	XP_006719141.1:p.Gln1294His
XM_011520671.1:c.3429G>T (LRP6)	XP_011518973.1:p.Gln1143His
XR_429034.1:n.4015G>T (LRP6)
XR_429035.1:n.4015G>T (LRP6)
XM_006719078.4:c.3882G>T (LRP6)	XP_006719141.1:p.Gln1294His
XM_011520671.3:c.3429G>T (LRP6)	XP_011518973.1:p.Gln1143His
XR_002957325.1:n.4015G>T (LRP6)
XR_429035.3:n.4015G>T (LRP6)
NM_002336.3:c.3882G>T (LRP6) MANE Select	NP_002327.2:p.Gln1294His