Canonical Allele Identifier: CA381615564

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68174108T>G (hg19) ; chr11:g.68406640T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406640T>G , CM000673.2:g.68406640T>G	GRCh38
NC_000011.9:g.68174108T>G , CM000673.1:g.68174108T>G	GRCh37
NC_000011.8:g.67930684T>G	NCBI36
NG_015835.1:g.99001T>G
NG_015835.2:g.99001T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1918T>G MANE Select	ENSP00000294304.6:p.Cys640Gly
ENST00000294304.11:c.1918T>G	ENSP00000294304.6:p.Cys640Gly
ENST00000529993.5:c.*524T>G	ENSP00000436652.1:n.*524T>G
NM_001291902.1:c.175T>G	NP_001278831.1:p.Cys59Gly
NM_002335.3:c.1918T>G	NP_002326.2:p.Cys640Gly
XM_005273994.2:c.1918T>G	XP_005274051.1:p.Cys640Gly
XM_011545029.1:c.1945T>G	XP_011543331.1:p.Cys649Gly
XM_011545030.1:c.1945T>G	XP_011543332.1:p.Cys649Gly
XM_011545031.1:c.1945T>G	XP_011543333.1:p.Cys649Gly
XR_949925.1:n.1960T>G
XR_949926.1:n.1960T>G
XM_017017735.1:c.175T>G	XP_016873224.1:p.Cys59Gly
XR_001747874.1:n.1960T>G
XR_949925.2:n.1960T>G
XR_949926.2:n.1960T>G
NM_002335.4:c.1918T>G MANE Select	NP_002326.2:p.Cys640Gly
NM_001291902.2:c.175T>G	NP_001278831.1:p.Cys59Gly