Canonical Allele Identifier: CA381613854

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68201201T>G (hg19) ; chr11:g.68433733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433733T>G , CM000673.2:g.68433733T>G	GRCh38
NC_000011.9:g.68201201T>G , CM000673.1:g.68201201T>G	GRCh37
NC_000011.8:g.67957777T>G	NCBI36
NG_015835.1:g.126094T>G
NG_015835.2:g.126094T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3895T>G MANE Select	ENSP00000294304.6:p.Ser1299Ala
ENST00000294304.11:c.3895T>G	ENSP00000294304.6:p.Ser1299Ala
ENST00000529993.5:c.*2501T>G	ENSP00000436652.1:n.*2501T>G
NM_001291902.1:c.2152T>G	NP_001278831.1:p.Ser718Ala
NM_002335.3:c.3895T>G	NP_002326.2:p.Ser1299Ala
XM_005273994.2:c.3895T>G	XP_005274051.1:p.Ser1299Ala
XM_011545029.1:c.3922T>G	XP_011543331.1:p.Ser1308Ala
XM_011545030.1:c.3922T>G	XP_011543332.1:p.Ser1308Ala
XM_011545031.1:c.3922T>G	XP_011543333.1:p.Ser1308Ala
XR_949925.1:n.3937T>G
XR_949926.1:n.3937T>G
XM_017017735.1:c.2152T>G	XP_016873224.1:p.Ser718Ala
XM_017017736.1:c.1435T>G	XP_016873225.1:p.Ser479Ala
XR_949925.2:n.3937T>G
XR_949926.2:n.3937T>G
NM_002335.4:c.3895T>G MANE Select	NP_002326.2:p.Ser1299Ala
NM_001291902.2:c.2152T>G	NP_001278831.1:p.Ser718Ala