Canonical Allele Identifier: CA6149501

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1113286
• ClinVar RCV Id: RCV001440604 ; RCV002276735
• dbSNP Id: rs760151423
• ExAC: 11:68174182 C / T
• gnomAD v2: 11-68174182-C-T
• gnomAD v3: 11-68406714-C-T
• gnomAD v4: 11-68406714-C-T
• MyVariant Identifiers: chr11:g.68174182C>T (hg19) ; chr11:g.68406714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406714C>T , CM000673.2:g.68406714C>T	GRCh38
NC_000011.9:g.68174182C>T , CM000673.1:g.68174182C>T	GRCh37
NC_000011.8:g.67930758C>T	NCBI36
NG_015835.1:g.99075C>T
NG_015835.2:g.99075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1992C>T MANE Select	ENSP00000294304.6:p.Asn664=
ENST00000294304.11:c.1992C>T	ENSP00000294304.6:p.Asn664=
ENST00000529993.5:c.*598C>T	ENSP00000436652.1:n.*598C>T
NM_001291902.1:c.249C>T	NP_001278831.1:p.Asn83=
NM_002335.3:c.1992C>T	NP_002326.2:p.Asn664=
XM_005273994.2:c.1992C>T	XP_005274051.1:p.Asn664=
XM_011545029.1:c.2019C>T	XP_011543331.1:p.Asn673=
XM_011545030.1:c.2019C>T	XP_011543332.1:p.Asn673=
XM_011545031.1:c.2019C>T	XP_011543333.1:p.Asn673=
XR_949925.1:n.2034C>T
XR_949926.1:n.2034C>T
XM_017017735.1:c.249C>T	XP_016873224.1:p.Asn83=
XR_001747874.1:n.2034C>T
XR_949925.2:n.2034C>T
XR_949926.2:n.2034C>T
NM_002335.4:c.1992C>T MANE Select	NP_002326.2:p.Asn664=
NM_001291902.2:c.249C>T	NP_001278831.1:p.Asn83=