Canonical Allele Identifier: CA381615728

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2478871
• ClinVar RCV Id: RCV003198967
• MyVariant Identifiers: chr11:g.68174183A>C (hg19) ; chr11:g.68406715A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406715A>C , CM000673.2:g.68406715A>C	GRCh38
NC_000011.9:g.68174183A>C , CM000673.1:g.68174183A>C	GRCh37
NC_000011.8:g.67930759A>C	NCBI36
NG_015835.1:g.99076A>C
NG_015835.2:g.99076A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1993A>C MANE Select	ENSP00000294304.6:p.Asn665His
ENST00000294304.11:c.1993A>C	ENSP00000294304.6:p.Asn665His
ENST00000529993.5:c.*599A>C	ENSP00000436652.1:n.*599A>C
NM_001291902.1:c.250A>C	NP_001278831.1:p.Asn84His
NM_002335.3:c.1993A>C	NP_002326.2:p.Asn665His
XM_005273994.2:c.1993A>C	XP_005274051.1:p.Asn665His
XM_011545029.1:c.2020A>C	XP_011543331.1:p.Asn674His
XM_011545030.1:c.2020A>C	XP_011543332.1:p.Asn674His
XM_011545031.1:c.2020A>C	XP_011543333.1:p.Asn674His
XR_949925.1:n.2035A>C
XR_949926.1:n.2035A>C
XM_017017735.1:c.250A>C	XP_016873224.1:p.Asn84His
XR_001747874.1:n.2035A>C
XR_949925.2:n.2035A>C
XR_949926.2:n.2035A>C
NM_002335.4:c.1993A>C MANE Select	NP_002326.2:p.Asn665His
NM_001291902.2:c.250A>C	NP_001278831.1:p.Asn84His