Canonical Allele Identifier: CA224253175

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68437002G>A , CM000673.2:g.68437002G>A	GRCh38
NC_000011.9:g.68204470G>A , CM000673.1:g.68204470G>A	GRCh37
NC_000011.8:g.67961046G>A	NCBI36
NG_015835.1:g.129363G>A
NG_015835.2:g.129363G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.4111+3G>A MANE Select	NP_002326.2:n.4111+3G>A
ENST00000294304.12:c.4111+3G>A MANE Select	ENSP00000294304.6:n.4111+3G>A
NM_001291902.1:c.2368+3G>A	NP_001278831.1:n.2368+3G>A
NM_001291902.2:c.2368+3G>A	NP_001278831.1:n.2368+3G>A
NM_002335.3:c.4111+3G>A	NP_002326.2:n.4111+3G>A
ENST00000294304.11:c.4111+3G>A	ENSP00000294304.6:n.4111+3G>A
ENST00000529993.5:c.*2717+3G>A	ENSP00000436652.1:n.*2717+3G>A
XM_005273994.2:c.4111+3G>A	XP_005274051.1:n.4111+3G>A
XM_011545029.1:c.4138+3G>A	XP_011543331.1:n.4138+3G>A
XM_011545030.1:c.4138+3G>A	XP_011543332.1:n.4138+3G>A
XM_011545031.1:c.4138+3G>A	XP_011543333.1:n.4138+3G>A
XM_017017735.1:c.2368+3G>A	XP_016873224.1:n.2368+3G>A
XM_017017736.1:c.1651+3G>A	XP_016873225.1:n.1651+3G>A
XR_949925.1:n.4153+3G>A
XR_949925.2:n.4153+3G>A
XR_949926.1:n.4153+3G>A
XR_949926.2:n.4153+3G>A