Canonical Allele Identifier: CA478661515

Gene: LRP6 BCL2L14

Linked Data

• MyVariant Identifiers: chr12:g.12334174A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12181240A>G , CM000674.2:g.12181240A>G	GRCh38
NC_000012.11:g.12334174A>G , CM000674.1:g.12334174A>G	GRCh37
NC_000012.10:g.12225441A>G	NCBI36
NG_016168.1:g.90638T>C
NG_016168.2:g.90638T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.1176T>C (LRP6) MANE Select	ENSP00000261349.4:p.Ser392=
ENST00000261349.8:c.1176T>C (LRP6)	ENSP00000261349.4:p.Ser392=
ENST00000298566.2:c.*25-6065A>G (BCL2L14)	ENSP00000298566.1:n.*25-6065A>G
ENST00000538239.5:c.770T>C (LRP6)
ENST00000543091.1:c.1176T>C (LRP6)	ENSP00000442472.1:p.Ser392=
NM_002336.2:c.1176T>C (LRP6)	NP_002327.2:p.Ser392=
XM_006719078.2:c.1176T>C (LRP6)	XP_006719141.1:p.Ser392=
XM_011520671.1:c.723T>C (LRP6)	XP_011518973.1:p.Ser241=
XR_429034.1:n.1309T>C (LRP6)
XR_429035.1:n.1309T>C (LRP6)
XM_006719078.4:c.1176T>C (LRP6)	XP_006719141.1:p.Ser392=
XM_011520671.3:c.723T>C (LRP6)	XP_011518973.1:p.Ser241=
XR_002957325.1:n.1309T>C (LRP6)
XR_429035.3:n.1309T>C (LRP6)
NM_002336.3:c.1176T>C (LRP6) MANE Select	NP_002327.2:p.Ser392=