Canonical Allele Identifier: CA381616704
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410121G>T , CM000673.2:g.68410121G>T GRCh38
NC_000011.9:g.68177589G>T , CM000673.1:g.68177589G>T GRCh37
NC_000011.8:g.67934165G>T NCBI36
NG_015835.1:g.102482G>T
NG_015835.2:g.102482G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2299G>T MANE Select ENSP00000294304.6:p.Ala767Ser
ENST00000294304.11:c.2299G>T ENSP00000294304.6:p.Ala767Ser
ENST00000528714.1:n.93G>T
ENST00000529993.5:c.*905G>T ENSP00000436652.1:n.*905G>T
NM_001291902.1:c.556G>T NP_001278831.1:p.Ala186Ser
NM_002335.3:c.2299G>T NP_002326.2:p.Ala767Ser
XM_005273994.2:c.2299G>T XP_005274051.1:p.Ala767Ser
XM_011545029.1:c.2326G>T XP_011543331.1:p.Ala776Ser
XM_011545030.1:c.2326G>T XP_011543332.1:p.Ala776Ser
XM_011545031.1:c.2326G>T XP_011543333.1:p.Ala776Ser
XR_949925.1:n.2341G>T
XR_949926.1:n.2341G>T
XM_017017735.1:c.556G>T XP_016873224.1:p.Ala186Ser
XR_001747874.1:n.2341G>T
XR_949925.2:n.2341G>T
XR_949926.2:n.2341G>T
NM_002335.4:c.2299G>T MANE Select NP_002326.2:p.Ala767Ser
NM_001291902.2:c.556G>T NP_001278831.1:p.Ala186Ser