Canonical Allele Identifier: CA6150423

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446497A>G , CM000673.2:g.68446497A>G	GRCh38
NC_000011.9:g.68213965A>G , CM000673.1:g.68213965A>G	GRCh37
NC_000011.8:g.67970541A>G	NCBI36
NG_015835.1:g.138858A>G
NG_015835.2:g.138858A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.4550A>G MANE Select	NP_002326.2:p.Tyr1517Cys
ENST00000294304.12:c.4550A>G MANE Select	ENSP00000294304.6:p.Tyr1517Cys
NM_001291902.1:c.2807A>G	NP_001278831.1:p.Tyr936Cys
NM_001291902.2:c.2807A>G	NP_001278831.1:p.Tyr936Cys
NM_002335.3:c.4550A>G	NP_002326.2:p.Tyr1517Cys
ENST00000294304.11:c.4550A>G	ENSP00000294304.6:p.Tyr1517Cys
ENST00000529702.1:c.220A>G
ENST00000529993.5:c.*3156A>G	ENSP00000436652.1:n.*3156A>G
XM_005273994.2:c.4664A>G	XP_005274051.1:p.Tyr1555Cys
XM_011545029.1:c.4691A>G	XP_011543331.1:p.Tyr1564Cys
XM_011545030.1:c.4577A>G	XP_011543332.1:p.Tyr1526Cys
XM_011545031.1:c.4707A>G	XP_011543333.1:p.Leu1569=
XM_017017735.1:c.2921A>G	XP_016873224.1:p.Tyr974Cys
XM_017017736.1:c.2204A>G	XP_016873225.1:p.Tyr735Cys
XR_949925.1:n.4706A>G
XR_949925.2:n.4706A>G
XR_949926.1:n.4722A>G
XR_949926.2:n.4722A>G