Canonical Allele Identifier: CA6455734

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs749486941
• ExAC: 12:12334278 C / T
• gnomAD v2: 12-12334278-C-T
• gnomAD v4: 12-12181344-C-T
• MyVariant Identifiers: chr12:g.12334278C>T (hg19) ; chr12:g.12181344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12181344C>T , CM000674.2:g.12181344C>T	GRCh38
NC_000012.11:g.12334278C>T , CM000674.1:g.12334278C>T	GRCh37
NC_000012.10:g.12225545C>T	NCBI36
NG_016168.1:g.90534G>A
NG_016168.2:g.90534G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.1072G>A (LRP6) MANE Select	ENSP00000261349.4:p.Asp358Asn
ENST00000261349.8:c.1072G>A (LRP6)	ENSP00000261349.4:p.Asp358Asn
ENST00000298566.2:c.*25-5961C>T (BCL2L14)	ENSP00000298566.1:n.*25-5961C>T
ENST00000538239.5:c.666G>A (LRP6)
ENST00000543091.1:c.1072G>A (LRP6)	ENSP00000442472.1:p.Asp358Asn
NM_002336.2:c.1072G>A (LRP6)	NP_002327.2:p.Asp358Asn
XM_006719078.2:c.1072G>A (LRP6)	XP_006719141.1:p.Asp358Asn
XM_011520671.1:c.619G>A (LRP6)	XP_011518973.1:p.Asp207Asn
XR_429034.1:n.1205G>A (LRP6)
XR_429035.1:n.1205G>A (LRP6)
XM_006719078.4:c.1072G>A (LRP6)	XP_006719141.1:p.Asp358Asn
XM_011520671.3:c.619G>A (LRP6)	XP_011518973.1:p.Asp207Asn
XR_002957325.1:n.1205G>A (LRP6)
XR_429035.3:n.1205G>A (LRP6)
NM_002336.3:c.1072G>A (LRP6) MANE Select	NP_002327.2:p.Asp358Asn