Canonical Allele Identifier: CA381614439

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1038047
• ClinVar RCV Id: RCV001341296
• dbSNP Id: rs2098653909
• MyVariant Identifiers: chr11:g.68171080C>T (hg19) ; chr11:g.68403612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403612C>T , CM000673.2:g.68403612C>T	GRCh38
NC_000011.9:g.68171080C>T , CM000673.1:g.68171080C>T	GRCh37
NC_000011.8:g.67927656C>T	NCBI36
NG_015835.1:g.95973C>T
NG_015835.2:g.95973C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.1714C>T MANE Select	ENSP00000294304.6:p.His572Tyr
ENST00000294304.11:c.1714C>T	ENSP00000294304.6:p.His572Tyr
ENST00000529993.5:c.*126C>T	ENSP00000436652.1:n.*126C>T
NM_001291902.1:c.-224C>T	NP_001278831.1:n.-224C>T
NM_002335.3:c.1714C>T	NP_002326.2:p.His572Tyr
XM_005273994.2:c.1714C>T	XP_005274051.1:p.His572Tyr
XM_011545029.1:c.1741C>T	XP_011543331.1:p.His581Tyr
XM_011545030.1:c.1741C>T	XP_011543332.1:p.His581Tyr
XM_011545031.1:c.1741C>T	XP_011543333.1:p.His581Tyr
XR_949925.1:n.1756C>T
XR_949926.1:n.1756C>T
XR_001747874.1:n.1756C>T
XR_949925.2:n.1756C>T
XR_949926.2:n.1756C>T
NM_002335.4:c.1714C>T MANE Select	NP_002326.2:p.His572Tyr
NM_001291902.2:c.-224C>T	NP_001278831.1:n.-224C>T