Canonical Allele Identifier: CA6455366

Gene: LRP6 BCL2L14

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12150915T>C , CM000674.2:g.12150915T>C	GRCh38
NC_000012.11:g.12303849T>C , CM000674.1:g.12303849T>C	GRCh37
NC_000012.10:g.12195116T>C	NCBI36
NG_016168.1:g.120963A>G
NG_016168.2:g.120963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2915A>G (LRP6) MANE Select	ENSP00000261349.4:p.Tyr972Cys
ENST00000261349.8:c.2915A>G (LRP6)	ENSP00000261349.4:p.Tyr972Cys
ENST00000298566.2:c.*24+11936T>C (BCL2L14)	ENSP00000298566.1:n.*24+11936T>C
ENST00000538239.5:c.2509A>G (LRP6)
ENST00000543091.1:c.2915A>G (LRP6)	ENSP00000442472.1:p.Tyr972Cys
NM_002336.2:c.2915A>G (LRP6)	NP_002327.2:p.Tyr972Cys
XM_006719078.2:c.2915A>G (LRP6)	XP_006719141.1:p.Tyr972Cys
XM_011520671.1:c.2462A>G (LRP6)	XP_011518973.1:p.Tyr821Cys
XR_429034.1:n.3048A>G (LRP6)
XR_429035.1:n.3048A>G (LRP6)
XM_006719078.4:c.2915A>G (LRP6)	XP_006719141.1:p.Tyr972Cys
XM_011520671.3:c.2462A>G (LRP6)	XP_011518973.1:p.Tyr821Cys
XR_002957325.1:n.3048A>G (LRP6)
XR_429035.3:n.3048A>G (LRP6)
NM_002336.3:c.2915A>G (LRP6) MANE Select	NP_002327.2:p.Tyr972Cys