Canonical Allele Identifier: CA6149795

Gene: LRP5

Linked Data

• ClinVar Variation Id: 283834
• ClinVar RCV Id: RCV000405045 ; RCV001073591
• dbSNP Id: rs759674127
• ExAC: 11:68183919 A / G
• gnomAD v2: 11-68183919-A-G
• gnomAD v3: 11-68416451-A-G
• gnomAD v4: 11-68416451-A-G
• MyVariant Identifiers: chr11:g.68183919A>G (hg19) ; chr11:g.68416451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68416451A>G , CM000673.2:g.68416451A>G	GRCh38
NC_000011.9:g.68183919A>G , CM000673.1:g.68183919A>G	GRCh37
NC_000011.8:g.67940495A>G	NCBI36
NG_015835.1:g.108812A>G
NG_015835.2:g.108812A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.2951A>G MANE Select	ENSP00000294304.6:p.Tyr984Cys
ENST00000294304.11:c.2951A>G	ENSP00000294304.6:p.Tyr984Cys
ENST00000529993.5:c.*1557A>G	ENSP00000436652.1:n.*1557A>G
NM_001291902.1:c.1208A>G	NP_001278831.1:p.Tyr403Cys
NM_002335.3:c.2951A>G	NP_002326.2:p.Tyr984Cys
XM_005273994.2:c.2951A>G	XP_005274051.1:p.Tyr984Cys
XM_011545029.1:c.2978A>G	XP_011543331.1:p.Tyr993Cys
XM_011545030.1:c.2978A>G	XP_011543332.1:p.Tyr993Cys
XM_011545031.1:c.2978A>G	XP_011543333.1:p.Tyr993Cys
XR_949925.1:n.2993A>G
XR_949926.1:n.2993A>G
XM_017017735.1:c.1208A>G	XP_016873224.1:p.Tyr403Cys
XM_017017736.1:c.491A>G	XP_016873225.1:p.Tyr164Cys
XR_949925.2:n.2993A>G
XR_949926.2:n.2993A>G
NM_002335.4:c.2951A>G MANE Select	NP_002326.2:p.Tyr984Cys
NM_001291902.2:c.1208A>G	NP_001278831.1:p.Tyr403Cys