Canonical Allele Identifier: CA381617879

Gene: LRP5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4612C>G MANE Select	ENSP00000294304.6:p.Pro1538Ala
ENST00000294304.11:c.4612C>G	ENSP00000294304.6:p.Pro1538Ala
ENST00000529481.1:n.203C>G
ENST00000529702.1:c.282C>G
ENST00000529993.5:c.*3218C>G	ENSP00000436652.1:n.*3218C>G
NM_001291902.1:c.2869C>G	NP_001278831.1:p.Pro957Ala
NM_002335.3:c.4612C>G	NP_002326.2:p.Pro1538Ala
XM_005273994.2:c.4726C>G	XP_005274051.1:p.Pro1576Ala
XM_011545029.1:c.4753C>G	XP_011543331.1:p.Pro1585Ala
XM_011545030.1:c.4639C>G	XP_011543332.1:p.Pro1547Ala
XM_011545031.1:c.4769C>G	XP_011543333.1:p.Ala1590Gly
XR_949925.1:n.4999C>G
XR_949926.1:n.5015C>G
XM_017017735.1:c.2983C>G	XP_016873224.1:p.Pro995Ala
XM_017017736.1:c.2266C>G	XP_016873225.1:p.Pro756Ala
XR_949925.2:n.4999C>G
XR_949926.2:n.5015C>G
NM_002335.4:c.4612C>G MANE Select	NP_002326.2:p.Pro1538Ala
NM_001291902.2:c.2869C>G	NP_001278831.1:p.Pro957Ala