Canonical Allele Identifier: CA478843848

Gene: LRP6 BCL2L14

Linked Data

• gnomAD v4: 12-12131990-A-T
• MyVariant Identifiers: chr12:g.12284924A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12131990A>T , CM000674.2:g.12131990A>T	GRCh38
NC_000012.11:g.12284924A>T , CM000674.1:g.12284924A>T	GRCh37
NC_000012.10:g.12176191A>T	NCBI36
NG_016168.1:g.139888T>A
NG_016168.2:g.139888T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.3801T>A (LRP6) MANE Select	ENSP00000261349.4:p.Ala1267=
ENST00000261349.8:c.3801T>A (LRP6)	ENSP00000261349.4:p.Ala1267=
ENST00000298566.2:c.712-6846A>T (BCL2L14)	ENSP00000298566.1:n.712-6846A>T
ENST00000538239.5:c.3395T>A (LRP6)
ENST00000540415.1:n.122T>A (LRP6)
ENST00000543091.1:c.3734-68T>A (LRP6)	ENSP00000442472.1:n.3734-68T>A
NM_002336.2:c.3801T>A (LRP6)	NP_002327.2:p.Ala1267=
XM_006719078.2:c.3801T>A (LRP6)	XP_006719141.1:p.Ala1267=
XM_011520671.1:c.3348T>A (LRP6)	XP_011518973.1:p.Ala1116=
XR_429034.1:n.3934T>A (LRP6)
XR_429035.1:n.3934T>A (LRP6)
XM_006719078.4:c.3801T>A (LRP6)	XP_006719141.1:p.Ala1267=
XM_011520671.3:c.3348T>A (LRP6)	XP_011518973.1:p.Ala1116=
XR_002957325.1:n.3934T>A (LRP6)
XR_429035.3:n.3934T>A (LRP6)
NM_002336.3:c.3801T>A (LRP6) MANE Select	NP_002327.2:p.Ala1267=