Canonical Allele Identifier: CA381615322

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2043413
• ClinVar RCV Id: RCV002912977
• MyVariant Identifiers: chr11:g.68174014G>C (hg19) ; chr11:g.68406546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406546G>C , CM000673.2:g.68406546G>C	GRCh38
NC_000011.9:g.68174014G>C , CM000673.1:g.68174014G>C	GRCh37
NC_000011.8:g.67930590G>C	NCBI36
NG_015835.1:g.98907G>C
NG_015835.2:g.98907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1824G>C MANE Select	ENSP00000294304.6:p.Arg608Ser
ENST00000294304.11:c.1824G>C	ENSP00000294304.6:p.Arg608Ser
ENST00000528890.1:n.463G>C
ENST00000529993.5:c.*430G>C	ENSP00000436652.1:n.*430G>C
NM_001291902.1:c.81G>C	NP_001278831.1:p.Arg27Ser
NM_002335.3:c.1824G>C	NP_002326.2:p.Arg608Ser
XM_005273994.2:c.1824G>C	XP_005274051.1:p.Arg608Ser
XM_011545029.1:c.1851G>C	XP_011543331.1:p.Arg617Ser
XM_011545030.1:c.1851G>C	XP_011543332.1:p.Arg617Ser
XM_011545031.1:c.1851G>C	XP_011543333.1:p.Arg617Ser
XR_949925.1:n.1866G>C
XR_949926.1:n.1866G>C
XM_017017735.1:c.81G>C	XP_016873224.1:p.Arg27Ser
XR_001747874.1:n.1866G>C
XR_949925.2:n.1866G>C
XR_949926.2:n.1866G>C
NM_002335.4:c.1824G>C MANE Select	NP_002326.2:p.Arg608Ser
NM_001291902.2:c.81G>C	NP_001278831.1:p.Arg27Ser