Canonical Allele Identifier: CA381616805

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68213916C>G (hg19) ; chr11:g.68446448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446448C>G , CM000673.2:g.68446448C>G	GRCh38
NC_000011.9:g.68213916C>G , CM000673.1:g.68213916C>G	GRCh37
NC_000011.8:g.67970492C>G	NCBI36
NG_015835.1:g.138809C>G
NG_015835.2:g.138809C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4501C>G MANE Select	ENSP00000294304.6:p.Pro1501Ala
ENST00000294304.11:c.4501C>G	ENSP00000294304.6:p.Pro1501Ala
ENST00000529702.1:c.171C>G
ENST00000529993.5:c.*3107C>G	ENSP00000436652.1:n.*3107C>G
NM_001291902.1:c.2758C>G	NP_001278831.1:p.Pro920Ala
NM_002335.3:c.4501C>G	NP_002326.2:p.Pro1501Ala
XM_005273994.2:c.4615C>G	XP_005274051.1:p.Pro1539Ala
XM_011545029.1:c.4642C>G	XP_011543331.1:p.Pro1548Ala
XM_011545030.1:c.4528C>G	XP_011543332.1:p.Pro1510Ala
XM_011545031.1:c.4658C>G	XP_011543333.1:p.Ala1553Gly
XR_949925.1:n.4657C>G
XR_949926.1:n.4673C>G
XM_017017735.1:c.2872C>G	XP_016873224.1:p.Pro958Ala
XM_017017736.1:c.2155C>G	XP_016873225.1:p.Pro719Ala
XR_949925.2:n.4657C>G
XR_949926.2:n.4673C>G
NM_002335.4:c.4501C>G MANE Select	NP_002326.2:p.Pro1501Ala
NM_001291902.2:c.2758C>G	NP_001278831.1:p.Pro920Ala