Canonical Allele Identifier: CA383946531

Gene: LRP6 BCL2L14

Linked Data

• gnomAD v4: 12-12164394-C-T
• COSMIC: COSM936291
• MyVariant Identifiers: chr12:g.12317328C>T (hg19) ; chr12:g.12164394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164394C>T , CM000674.2:g.12164394C>T	GRCh38
NC_000012.11:g.12317328C>T , CM000674.1:g.12317328C>T	GRCh37
NC_000012.10:g.12208595C>T	NCBI36
NG_016168.1:g.107484G>A
NG_016168.2:g.107484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.1931G>A (LRP6) MANE Select	ENSP00000261349.4:p.Arg644Gln
ENST00000261349.8:c.1931G>A (LRP6)	ENSP00000261349.4:p.Arg644Gln
ENST00000298566.2:c.*25-22911C>T (BCL2L14)	ENSP00000298566.1:n.*25-22911C>T
ENST00000538239.5:c.1525G>A (LRP6)
ENST00000543091.1:c.1931G>A (LRP6)	ENSP00000442472.1:p.Arg644Gln
NM_002336.2:c.1931G>A (LRP6)	NP_002327.2:p.Arg644Gln
XM_006719078.2:c.1931G>A (LRP6)	XP_006719141.1:p.Arg644Gln
XM_011520671.1:c.1478G>A (LRP6)	XP_011518973.1:p.Arg493Gln
XR_429034.1:n.2064G>A (LRP6)
XR_429035.1:n.2064G>A (LRP6)
XM_006719078.4:c.1931G>A (LRP6)	XP_006719141.1:p.Arg644Gln
XM_011520671.3:c.1478G>A (LRP6)	XP_011518973.1:p.Arg493Gln
XR_002957325.1:n.2064G>A (LRP6)
XR_429035.3:n.2064G>A (LRP6)
NM_002336.3:c.1931G>A (LRP6) MANE Select	NP_002327.2:p.Arg644Gln