Canonical Allele Identifier: CA1980639860
Community Standard Title: NM_002335.4(LRP5):c.641C= (p.Ala214=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357802C= , CM000673.2:g.68357802C= GRCh38
NC_000011.9:g.68125270C= , CM000673.1:g.68125270C= GRCh37
NC_000011.8:g.67881846C= NCBI36
NG_015835.1:g.50163C=
NG_015835.2:g.50163C=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.641C= MANE Select NP_002326.2:p.Ala214=
ENST00000294304.12:c.641C= MANE Select ENSP00000294304.6:p.Ala214=
NM_001291902.1:c.-1125C= NP_001278831.1:n.-1125C=
NM_001291902.2:c.-1125C= NP_001278831.1:n.-1125C=
NM_002335.3:c.641C= NP_002326.2:p.Ala214=
ENST00000294304.11:c.641C= ENSP00000294304.6:p.Ala214=
ENST00000529993.5:c.641C= ENSP00000436652.1:p.Ala214=
XM_005273994.2:c.641C= XP_005274051.1:p.Ala214=
XM_011545029.1:c.668C= XP_011543331.1:p.Ala223=
XM_011545030.1:c.668C= XP_011543332.1:p.Ala223=
XM_011545031.1:c.668C= XP_011543333.1:p.Ala223=
XR_001747874.1:n.683C=
XR_949925.1:n.683C=
XR_949925.2:n.683C=
XR_949926.1:n.683C=
XR_949926.2:n.683C=