Canonical Allele Identifier: CA381613845

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68201198T>A (hg19) ; chr11:g.68433730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433730T>A , CM000673.2:g.68433730T>A	GRCh38
NC_000011.9:g.68201198T>A , CM000673.1:g.68201198T>A	GRCh37
NC_000011.8:g.67957774T>A	NCBI36
NG_015835.1:g.126091T>A
NG_015835.2:g.126091T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3892T>A MANE Select	ENSP00000294304.6:p.Cys1298Ser
ENST00000294304.11:c.3892T>A	ENSP00000294304.6:p.Cys1298Ser
ENST00000529993.5:c.*2498T>A	ENSP00000436652.1:n.*2498T>A
NM_001291902.1:c.2149T>A	NP_001278831.1:p.Cys717Ser
NM_002335.3:c.3892T>A	NP_002326.2:p.Cys1298Ser
XM_005273994.2:c.3892T>A	XP_005274051.1:p.Cys1298Ser
XM_011545029.1:c.3919T>A	XP_011543331.1:p.Cys1307Ser
XM_011545030.1:c.3919T>A	XP_011543332.1:p.Cys1307Ser
XM_011545031.1:c.3919T>A	XP_011543333.1:p.Cys1307Ser
XR_949925.1:n.3934T>A
XR_949926.1:n.3934T>A
XM_017017735.1:c.2149T>A	XP_016873224.1:p.Cys717Ser
XM_017017736.1:c.1432T>A	XP_016873225.1:p.Cys478Ser
XR_949925.2:n.3934T>A
XR_949926.2:n.3934T>A
NM_002335.4:c.3892T>A MANE Select	NP_002326.2:p.Cys1298Ser
NM_001291902.2:c.2149T>A	NP_001278831.1:p.Cys717Ser