Canonical Allele Identifier: CA6150157

Gene: LRP5

Linked Data

• ClinVar Variation Id: 940621
• ClinVar RCV Id: RCV001210244 ; RCV002491642
• dbSNP Id: rs370347973
• ExAC: 11:68201225 C / T
• gnomAD v2: 11-68201225-C-T
• gnomAD v3: 11-68433757-C-T
• gnomAD v4: 11-68433757-C-T
• MyVariant Identifiers: chr11:g.68201225C>T (hg19) ; chr11:g.68433757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433757C>T , CM000673.2:g.68433757C>T	GRCh38
NC_000011.9:g.68201225C>T , CM000673.1:g.68201225C>T	GRCh37
NC_000011.8:g.67957801C>T	NCBI36
NG_015835.1:g.126118C>T
NG_015835.2:g.126118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3919C>T MANE Select	ENSP00000294304.6:p.Arg1307Trp
ENST00000294304.11:c.3919C>T	ENSP00000294304.6:p.Arg1307Trp
ENST00000529993.5:c.*2525C>T	ENSP00000436652.1:n.*2525C>T
NM_001291902.1:c.2176C>T	NP_001278831.1:p.Arg726Trp
NM_002335.3:c.3919C>T	NP_002326.2:p.Arg1307Trp
XM_005273994.2:c.3919C>T	XP_005274051.1:p.Arg1307Trp
XM_011545029.1:c.3946C>T	XP_011543331.1:p.Arg1316Trp
XM_011545030.1:c.3946C>T	XP_011543332.1:p.Arg1316Trp
XM_011545031.1:c.3946C>T	XP_011543333.1:p.Arg1316Trp
XR_949925.1:n.3961C>T
XR_949926.1:n.3961C>T
XM_017017735.1:c.2176C>T	XP_016873224.1:p.Arg726Trp
XM_017017736.1:c.1459C>T	XP_016873225.1:p.Arg487Trp
XR_949925.2:n.3961C>T
XR_949926.2:n.3961C>T
NM_002335.4:c.3919C>T MANE Select	NP_002326.2:p.Arg1307Trp
NM_001291902.2:c.2176C>T	NP_001278831.1:p.Arg726Trp