Canonical Allele Identifier: CA381616676
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410107A>T , CM000673.2:g.68410107A>T GRCh38
NC_000011.9:g.68177575A>T , CM000673.1:g.68177575A>T GRCh37
NC_000011.8:g.67934151A>T NCBI36
NG_015835.1:g.102468A>T
NG_015835.2:g.102468A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2285A>T MANE Select ENSP00000294304.6:p.Asn762Ile
ENST00000294304.11:c.2285A>T ENSP00000294304.6:p.Asn762Ile
ENST00000528714.1:n.79A>T
ENST00000529993.5:c.*891A>T ENSP00000436652.1:n.*891A>T
NM_001291902.1:c.542A>T NP_001278831.1:p.Asn181Ile
NM_002335.3:c.2285A>T NP_002326.2:p.Asn762Ile
XM_005273994.2:c.2285A>T XP_005274051.1:p.Asn762Ile
XM_011545029.1:c.2312A>T XP_011543331.1:p.Asn771Ile
XM_011545030.1:c.2312A>T XP_011543332.1:p.Asn771Ile
XM_011545031.1:c.2312A>T XP_011543333.1:p.Asn771Ile
XR_949925.1:n.2327A>T
XR_949926.1:n.2327A>T
XM_017017735.1:c.542A>T XP_016873224.1:p.Asn181Ile
XR_001747874.1:n.2327A>T
XR_949925.2:n.2327A>T
XR_949926.2:n.2327A>T
NM_002335.4:c.2285A>T MANE Select NP_002326.2:p.Asn762Ile
NM_001291902.2:c.542A>T NP_001278831.1:p.Asn181Ile