Canonical Allele Identifier: CA381617877

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68216302C>A (hg19) ; chr11:g.68448834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448834C>A , CM000673.2:g.68448834C>A	GRCh38
NC_000011.9:g.68216302C>A , CM000673.1:g.68216302C>A	GRCh37
NC_000011.8:g.67972878C>A	NCBI36
NG_015835.1:g.141195C>A
NG_015835.2:g.141195C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4612C>A MANE Select	ENSP00000294304.6:p.Pro1538Thr
ENST00000294304.11:c.4612C>A	ENSP00000294304.6:p.Pro1538Thr
ENST00000529481.1:n.203C>A
ENST00000529702.1:c.282C>A
ENST00000529993.5:c.*3218C>A	ENSP00000436652.1:n.*3218C>A
NM_001291902.1:c.2869C>A	NP_001278831.1:p.Pro957Thr
NM_002335.3:c.4612C>A	NP_002326.2:p.Pro1538Thr
XM_005273994.2:c.4726C>A	XP_005274051.1:p.Pro1576Thr
XM_011545029.1:c.4753C>A	XP_011543331.1:p.Pro1585Thr
XM_011545030.1:c.4639C>A	XP_011543332.1:p.Pro1547Thr
XM_011545031.1:c.4769C>A	XP_011543333.1:p.Ala1590Asp
XR_949925.1:n.4999C>A
XR_949926.1:n.5015C>A
XM_017017735.1:c.2983C>A	XP_016873224.1:p.Pro995Thr
XM_017017736.1:c.2266C>A	XP_016873225.1:p.Pro756Thr
XR_949925.2:n.4999C>A
XR_949926.2:n.5015C>A
NM_002335.4:c.4612C>A MANE Select	NP_002326.2:p.Pro1538Thr
NM_001291902.2:c.2869C>A	NP_001278831.1:p.Pro957Thr