Canonical Allele Identifier: CA16043764

Gene: LRP5

Linked Data

• ClinVar Variation Id: 374495
• ClinVar RCV Id: RCV000415804
• dbSNP Id: rs1057519127
• gnomAD v2: 11-68179042-C-G
• gnomAD v4: 11-68411574-C-G
• MyVariant Identifiers: chr11:g.68179042C>G (hg19) ; chr11:g.68411574C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68411574C>G , CM000673.2:g.68411574C>G	GRCh38
NC_000011.9:g.68179042C>G , CM000673.1:g.68179042C>G	GRCh37
NC_000011.8:g.67935618C>G	NCBI36
NG_015835.1:g.103935C>G
NG_015835.2:g.103935C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.2457C>G MANE Select	ENSP00000294304.6:p.Tyr819Ter
ENST00000294304.11:c.2457C>G	ENSP00000294304.6:p.Tyr819Ter
ENST00000528714.1:n.251C>G
ENST00000529993.5:c.*1063C>G	ENSP00000436652.1:n.*1063C>G
NM_001291902.1:c.714C>G	NP_001278831.1:p.Tyr238Ter
NM_002335.3:c.2457C>G	NP_002326.2:p.Tyr819Ter
XM_005273994.2:c.2457C>G	XP_005274051.1:p.Tyr819Ter
XM_011545029.1:c.2484C>G	XP_011543331.1:p.Tyr828Ter
XM_011545030.1:c.2484C>G	XP_011543332.1:p.Tyr828Ter
XM_011545031.1:c.2484C>G	XP_011543333.1:p.Tyr828Ter
XR_949925.1:n.2499C>G
XR_949926.1:n.2499C>G
XM_017017735.1:c.714C>G	XP_016873224.1:p.Tyr238Ter
XR_001747874.1:n.2499C>G
XR_949925.2:n.2499C>G
XR_949926.2:n.2499C>G
NM_002335.4:c.2457C>G MANE Select	NP_002326.2:p.Tyr819Ter
NM_001291902.2:c.714C>G	NP_001278831.1:p.Tyr238Ter