Canonical Allele Identifier: CA381618050

Gene: LRP5

Linked Data

• dbSNP Id: rs724159827
• gnomAD v2: 11-68216341-G-T
• MyVariant Identifiers: chr11:g.68216341G>T (hg19) ; chr11:g.68448873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448873G>T , CM000673.2:g.68448873G>T	GRCh38
NC_000011.9:g.68216341G>T , CM000673.1:g.68216341G>T	GRCh37
NC_000011.8:g.67972917G>T	NCBI36
NG_015835.1:g.141234G>T
NG_015835.2:g.141234G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4651G>T MANE Select	ENSP00000294304.6:p.Asp1551Tyr
ENST00000294304.11:c.4651G>T	ENSP00000294304.6:p.Asp1551Tyr
ENST00000529481.1:n.242G>T
ENST00000529702.1:c.321G>T
ENST00000529993.5:c.*3257G>T	ENSP00000436652.1:n.*3257G>T
NM_001291902.1:c.2908G>T	NP_001278831.1:p.Asp970Tyr
NM_002335.3:c.4651G>T	NP_002326.2:p.Asp1551Tyr
XM_005273994.2:c.4765G>T	XP_005274051.1:p.Asp1589Tyr
XM_011545029.1:c.4792G>T	XP_011543331.1:p.Asp1598Tyr
XM_011545030.1:c.4678G>T	XP_011543332.1:p.Asp1560Tyr
XM_011545031.1:c.*5G>T	XP_011543333.1:n.*5G>T
XR_949925.1:n.5038G>T
XR_949926.1:n.5054G>T
XM_017017735.1:c.3022G>T	XP_016873224.1:p.Asp1008Tyr
XM_017017736.1:c.2305G>T	XP_016873225.1:p.Asp769Tyr
XR_949925.2:n.5038G>T
XR_949926.2:n.5054G>T
NM_002335.4:c.4651G>T MANE Select	NP_002326.2:p.Asp1551Tyr
NM_001291902.2:c.2908G>T	NP_001278831.1:p.Asp970Tyr