Canonical Allele Identifier: CA204903

Gene: LRP5

Linked Data

• ClinVar Variation Id: 208784
• ClinVar RCV Id: RCV000190810
• dbSNP Id: rs770383372
• MyVariant Identifiers: chr11:g.68125129G>C (hg19) ; chr11:g.68357661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357661G>C , CM000673.2:g.68357661G>C	GRCh38
NC_000011.9:g.68125129G>C , CM000673.1:g.68125129G>C	GRCh37
NC_000011.8:g.67881705G>C	NCBI36
NG_015835.1:g.50022G>C
NG_015835.2:g.50022G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.500G>C MANE Select	ENSP00000294304.6:p.Trp167Ser
ENST00000294304.11:c.500G>C	ENSP00000294304.6:p.Trp167Ser
ENST00000529993.5:c.500G>C	ENSP00000436652.1:p.Trp167Ser
NM_001291902.1:c.-1266G>C	NP_001278831.1:n.-1266G>C
NM_002335.3:c.500G>C	NP_002326.2:p.Trp167Ser
XM_005273994.2:c.500G>C	XP_005274051.1:p.Trp167Ser
XM_011545029.1:c.527G>C	XP_011543331.1:p.Trp176Ser
XM_011545030.1:c.527G>C	XP_011543332.1:p.Trp176Ser
XM_011545031.1:c.527G>C	XP_011543333.1:p.Trp176Ser
XR_949925.1:n.542G>C
XR_949926.1:n.542G>C
XR_001747874.1:n.542G>C
XR_949925.2:n.542G>C
XR_949926.2:n.542G>C
NM_002335.4:c.500G>C MANE Select	NP_002326.2:p.Trp167Ser
NM_001291902.2:c.-1266G>C	NP_001278831.1:n.-1266G>C