Canonical Allele Identifier: CA475460183
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68125244G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357776G>A , CM000673.2:g.68357776G>A GRCh38
NC_000011.9:g.68125244G>A , CM000673.1:g.68125244G>A GRCh37
NC_000011.8:g.67881820G>A NCBI36
NG_015835.1:g.50137G>A
NG_015835.2:g.50137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.615G>A MANE Select ENSP00000294304.6:p.Glu205=
ENST00000294304.11:c.615G>A ENSP00000294304.6:p.Glu205=
ENST00000529993.5:c.615G>A ENSP00000436652.1:p.Glu205=
NM_001291902.1:c.-1151G>A NP_001278831.1:n.-1151G>A
NM_002335.3:c.615G>A NP_002326.2:p.Glu205=
XM_005273994.2:c.615G>A XP_005274051.1:p.Glu205=
XM_011545029.1:c.642G>A XP_011543331.1:p.Glu214=
XM_011545030.1:c.642G>A XP_011543332.1:p.Glu214=
XM_011545031.1:c.642G>A XP_011543333.1:p.Glu214=
XR_949925.1:n.657G>A
XR_949926.1:n.657G>A
XR_001747874.1:n.657G>A
XR_949925.2:n.657G>A
XR_949926.2:n.657G>A
NM_002335.4:c.615G>A MANE Select NP_002326.2:p.Glu205=
NM_001291902.2:c.-1151G>A NP_001278831.1:n.-1151G>A