Canonical Allele Identifier: CA10603186

Gene: LRP6 BCL2L14

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12150877G>A , CM000674.2:g.12150877G>A	GRCh38
NG_016168.1:g.121001C>T
NG_016168.2:g.121001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2953C>T (LRP6) MANE Select	ENSP00000261349.4:p.Arg985Ter
ENST00000261349.8:c.2953C>T (LRP6)	ENSP00000261349.4:p.Arg985Ter
ENST00000298566.2:c.*24+11898G>A (BCL2L14)	ENSP00000298566.1:n.*24+11898G>A
ENST00000538239.5:c.2547C>T (LRP6)
ENST00000543091.1:c.2953C>T (LRP6)	ENSP00000442472.1:p.Arg985Ter
NM_002336.2:c.2953C>T (LRP6)	NP_002327.2:p.Arg985Ter
XM_006719078.2:c.2953C>T (LRP6)	XP_006719141.1:p.Arg985Ter
XM_011520671.1:c.2500C>T (LRP6)	XP_011518973.1:p.Arg834Ter
XR_429034.1:n.3086C>T (LRP6)
XR_429035.1:n.3086C>T (LRP6)
XM_006719078.4:c.2953C>T (LRP6)	XP_006719141.1:p.Arg985Ter
XM_011520671.3:c.2500C>T (LRP6)	XP_011518973.1:p.Arg834Ter
XR_002957325.1:n.3086C>T (LRP6)
XR_429035.3:n.3086C>T (LRP6)
NM_002336.3:c.2953C>T (LRP6) MANE Select	NP_002327.2:p.Arg985Ter