Canonical Allele Identifier: CA383946537

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs1862818949
• MyVariant Identifiers: chr12:g.12317330T>A (hg19) ; chr12:g.12164396T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164396T>A , CM000674.2:g.12164396T>A	GRCh38
NC_000012.11:g.12317330T>A , CM000674.1:g.12317330T>A	GRCh37
NC_000012.10:g.12208597T>A	NCBI36
NG_016168.1:g.107482A>T
NG_016168.2:g.107482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.1929A>T (LRP6) MANE Select	ENSP00000261349.4:p.Arg643Ser
ENST00000261349.8:c.1929A>T (LRP6)	ENSP00000261349.4:p.Arg643Ser
ENST00000298566.2:c.*25-22909T>A (BCL2L14)	ENSP00000298566.1:n.*25-22909T>A
ENST00000538239.5:c.1523A>T (LRP6)
ENST00000543091.1:c.1929A>T (LRP6)	ENSP00000442472.1:p.Arg643Ser
NM_002336.2:c.1929A>T (LRP6)	NP_002327.2:p.Arg643Ser
XM_006719078.2:c.1929A>T (LRP6)	XP_006719141.1:p.Arg643Ser
XM_011520671.1:c.1476A>T (LRP6)	XP_011518973.1:p.Arg492Ser
XR_429034.1:n.2062A>T (LRP6)
XR_429035.1:n.2062A>T (LRP6)
XM_006719078.4:c.1929A>T (LRP6)	XP_006719141.1:p.Arg643Ser
XM_011520671.3:c.1476A>T (LRP6)	XP_011518973.1:p.Arg492Ser
XR_002957325.1:n.2062A>T (LRP6)
XR_429035.3:n.2062A>T (LRP6)
NM_002336.3:c.1929A>T (LRP6) MANE Select	NP_002327.2:p.Arg643Ser