Canonical Allele Identifier: CA381613866

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68201208C>A (hg19) ; chr11:g.68433740C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433740C>A , CM000673.2:g.68433740C>A	GRCh38
NC_000011.9:g.68201208C>A , CM000673.1:g.68201208C>A	GRCh37
NC_000011.8:g.67957784C>A	NCBI36
NG_015835.1:g.126101C>A
NG_015835.2:g.126101C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3902C>A MANE Select	ENSP00000294304.6:p.Ala1301Asp
ENST00000294304.11:c.3902C>A	ENSP00000294304.6:p.Ala1301Asp
ENST00000529993.5:c.*2508C>A	ENSP00000436652.1:n.*2508C>A
NM_001291902.1:c.2159C>A	NP_001278831.1:p.Ala720Asp
NM_002335.3:c.3902C>A	NP_002326.2:p.Ala1301Asp
XM_005273994.2:c.3902C>A	XP_005274051.1:p.Ala1301Asp
XM_011545029.1:c.3929C>A	XP_011543331.1:p.Ala1310Asp
XM_011545030.1:c.3929C>A	XP_011543332.1:p.Ala1310Asp
XM_011545031.1:c.3929C>A	XP_011543333.1:p.Ala1310Asp
XR_949925.1:n.3944C>A
XR_949926.1:n.3944C>A
XM_017017735.1:c.2159C>A	XP_016873224.1:p.Ala720Asp
XM_017017736.1:c.1442C>A	XP_016873225.1:p.Ala481Asp
XR_949925.2:n.3944C>A
XR_949926.2:n.3944C>A
NM_002335.4:c.3902C>A MANE Select	NP_002326.2:p.Ala1301Asp
NM_001291902.2:c.2159C>A	NP_001278831.1:p.Ala720Asp