Canonical Allele Identifier: CA383946502

Gene: LRP6 BCL2L14

Linked Data

• MyVariant Identifiers: chr12:g.12317313G>A (hg19) ; chr12:g.12164379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164379G>A , CM000674.2:g.12164379G>A	GRCh38
NC_000012.11:g.12317313G>A , CM000674.1:g.12317313G>A	GRCh37
NC_000012.10:g.12208580G>A	NCBI36
NG_016168.1:g.107499C>T
NG_016168.2:g.107499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.1946C>T (LRP6) MANE Select	ENSP00000261349.4:p.Thr649Ile
ENST00000261349.8:c.1946C>T (LRP6)	ENSP00000261349.4:p.Thr649Ile
ENST00000298566.2:c.*25-22926G>A (BCL2L14)	ENSP00000298566.1:n.*25-22926G>A
ENST00000538239.5:c.1540C>T (LRP6)
ENST00000543091.1:c.1946C>T (LRP6)	ENSP00000442472.1:p.Thr649Ile
NM_002336.2:c.1946C>T (LRP6)	NP_002327.2:p.Thr649Ile
XM_006719078.2:c.1946C>T (LRP6)	XP_006719141.1:p.Thr649Ile
XM_011520671.1:c.1493C>T (LRP6)	XP_011518973.1:p.Thr498Ile
XR_429034.1:n.2079C>T (LRP6)
XR_429035.1:n.2079C>T (LRP6)
XM_006719078.4:c.1946C>T (LRP6)	XP_006719141.1:p.Thr649Ile
XM_011520671.3:c.1493C>T (LRP6)	XP_011518973.1:p.Thr498Ile
XR_002957325.1:n.2079C>T (LRP6)
XR_429035.3:n.2079C>T (LRP6)
NM_002336.3:c.1946C>T (LRP6) MANE Select	NP_002327.2:p.Thr649Ile