Canonical Allele Identifier: CA475462224

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68213909G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446441G>T , CM000673.2:g.68446441G>T	GRCh38
NC_000011.9:g.68213909G>T , CM000673.1:g.68213909G>T	GRCh37
NC_000011.8:g.67970485G>T	NCBI36
NG_015835.1:g.138802G>T
NG_015835.2:g.138802G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4494G>T MANE Select	ENSP00000294304.6:p.Leu1498=
ENST00000294304.11:c.4494G>T	ENSP00000294304.6:p.Leu1498=
ENST00000529702.1:c.164G>T
ENST00000529993.5:c.*3100G>T	ENSP00000436652.1:n.*3100G>T
NM_001291902.1:c.2751G>T	NP_001278831.1:p.Leu917=
NM_002335.3:c.4494G>T	NP_002326.2:p.Leu1498=
XM_005273994.2:c.4608G>T	XP_005274051.1:p.Leu1536=
XM_011545029.1:c.4635G>T	XP_011543331.1:p.Leu1545=
XM_011545030.1:c.4521G>T	XP_011543332.1:p.Leu1507=
XM_011545031.1:c.4651G>T	XP_011543333.1:p.Glu1551Ter
XR_949925.1:n.4650G>T
XR_949926.1:n.4666G>T
XM_017017735.1:c.2865G>T	XP_016873224.1:p.Leu955=
XM_017017736.1:c.2148G>T	XP_016873225.1:p.Leu716=
XR_949925.2:n.4650G>T
XR_949926.2:n.4666G>T
NM_002335.4:c.4494G>T MANE Select	NP_002326.2:p.Leu1498=
NM_001291902.2:c.2751G>T	NP_001278831.1:p.Leu917=