Canonical Allele Identifier: CA383946286

Gene: LRP6 BCL2L14

Linked Data

• gnomAD v4: 12-12164282-T-C
• MyVariant Identifiers: chr12:g.12317216T>C (hg19) ; chr12:g.12164282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164282T>C , CM000674.2:g.12164282T>C	GRCh38
NC_000012.11:g.12317216T>C , CM000674.1:g.12317216T>C	GRCh37
NC_000012.10:g.12208483T>C	NCBI36
NG_016168.1:g.107596A>G
NG_016168.2:g.107596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2043A>G (LRP6) MANE Select	ENSP00000261349.4:p.Ile681Met
ENST00000261349.8:c.2043A>G (LRP6)	ENSP00000261349.4:p.Ile681Met
ENST00000298566.2:c.*25-23023T>C (BCL2L14)	ENSP00000298566.1:n.*25-23023T>C
ENST00000538239.5:c.1637A>G (LRP6)
ENST00000543091.1:c.2043A>G (LRP6)	ENSP00000442472.1:p.Ile681Met
NM_002336.2:c.2043A>G (LRP6)	NP_002327.2:p.Ile681Met
XM_006719078.2:c.2043A>G (LRP6)	XP_006719141.1:p.Ile681Met
XM_011520671.1:c.1590A>G (LRP6)	XP_011518973.1:p.Ile530Met
XR_429034.1:n.2176A>G (LRP6)
XR_429035.1:n.2176A>G (LRP6)
XM_006719078.4:c.2043A>G (LRP6)	XP_006719141.1:p.Ile681Met
XM_011520671.3:c.1590A>G (LRP6)	XP_011518973.1:p.Ile530Met
XR_002957325.1:n.2176A>G (LRP6)
XR_429035.3:n.2176A>G (LRP6)
NM_002336.3:c.2043A>G (LRP6) MANE Select	NP_002327.2:p.Ile681Met