Canonical Allele Identifier: CA16044353
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 375569
ClinVar RCV Id: RCV000417043
dbSNP Id: rs1057519574

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68347960G>T , CM000673.2:g.68347960G>T GRCh38
NC_000011.9:g.68115428G>T , CM000673.1:g.68115428G>T GRCh37
NC_000011.8:g.67872004G>T NCBI36
NG_015835.1:g.40321G>T
NG_015835.2:g.40321G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.205G>T MANE Select ENSP00000294304.6:p.Asp69Tyr
ENST00000294304.11:c.205G>T ENSP00000294304.6:p.Asp69Tyr
ENST00000529993.5:c.205G>T ENSP00000436652.1:p.Asp69Tyr
NM_001291902.1:c.-1561G>T NP_001278831.1:n.-1561G>T
NM_002335.3:c.205G>T NP_002326.2:p.Asp69Tyr
XM_005273994.2:c.205G>T XP_005274051.1:p.Asp69Tyr
XM_011545029.1:c.232G>T XP_011543331.1:p.Asp78Tyr
XM_011545030.1:c.232G>T XP_011543332.1:p.Asp78Tyr
XM_011545031.1:c.232G>T XP_011543333.1:p.Asp78Tyr
XR_949925.1:n.247G>T
XR_949926.1:n.247G>T
XR_001747874.1:n.247G>T
XR_949925.2:n.247G>T
XR_949926.2:n.247G>T
NM_002335.4:c.205G>T MANE Select NP_002326.2:p.Asp69Tyr
NM_001291902.2:c.-1561G>T NP_001278831.1:n.-1561G>T