Canonical Allele Identifier: CA3101369
Gene: LRBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150278003G>A , CM000666.2:g.150278003G>A GRCh38
NC_000004.11:g.151199155G>A , CM000666.1:g.151199155G>A GRCh37
NC_000004.10:g.151418605G>A NCBI36
NG_032855.1:g.742495C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001364905.1:c.8318C>T MANE Select NP_001351834.1:p.Ala2773Val
ENST00000651943.2:c.8318C>T MANE Select ENSP00000498582.2:p.Ala2773Val
NM_001199282.2:c.8315C>T NP_001186211.2:p.Ala2772Val
NM_001367550.1:c.8333C>T NP_001354479.1:p.Ala2778Val
NM_006726.4:c.8351C>T NP_006717.2:p.Ala2784Val
ENST00000357115.7:c.8351C>T ENSP00000349629.3:p.Ala2784Val
ENST00000357115.9:c.8351C>T ENSP00000349629.3:p.Ala2784Val
ENST00000503716.5:n.2408C>T
ENST00000508606.1:c.386+4447C>T
ENST00000509835.5:c.4276C>T
ENST00000510157.1:n.699C>T
ENST00000510157.2:n.934C>T
ENST00000510413.5:c.8315C>T ENSP00000421552.1:p.Ala2772Val
ENST00000515096.5:n.1610C>T
ENST00000515096.6:n.4988C>T
ENST00000648626.1:n.2783C>T
ENST00000648823.1:c.2048C>T
ENST00000648878.1:c.1811C>T ENSP00000497002.1:p.Ala604Val
ENST00000651035.1:c.*2679C>T ENSP00000498673.1:n.*2679C>T
ENST00000651695.1:c.6047C>T ENSP00000498254.1:p.Ala2016Val
ENST00000651695.2:c.8333C>T ENSP00000498254.2:p.Ala2778Val
ENST00000697127.1:c.1991C>T ENSP00000513124.1:p.Ala664Val
ENST00000697128.1:c.2667C>T
XM_005263372.2:c.8366C>T XP_005263429.1:p.Ala2789Val
XM_005263372.3:c.8366C>T XP_005263429.1:p.Ala2789Val
XM_005263373.1:c.8366C>T XP_005263430.1:p.Ala2789Val
XM_005263373.3:c.8366C>T XP_005263430.1:p.Ala2789Val
XM_005263374.2:c.8333C>T XP_005263431.1:p.Ala2778Val
XM_005263374.3:c.8333C>T XP_005263431.1:p.Ala2778Val
XM_005263375.2:c.8318C>T XP_005263432.1:p.Ala2773Val
XM_011532434.1:c.8351C>T XP_011530736.1:p.Ala2784Val
XM_011532434.2:c.8351C>T XP_011530736.1:p.Ala2784Val
XM_017008872.2:c.8333C>T XP_016864361.1:p.Ala2778Val
XM_017008873.2:c.2036C>T XP_016864362.1:p.Ala679Val
XM_017008874.1:c.2030C>T XP_016864363.1:p.Ala677Val