Canonical Allele Identifier: CA441758240
Gene: LRBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150265752C>A , CM000666.2:g.150265752C>A GRCh38
NC_000004.11:g.151186904C>A , CM000666.1:g.151186904C>A GRCh37
NC_000004.10:g.151406354C>A NCBI36
NG_032855.1:g.754746G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001364905.1:c.8529G>T MANE Select NP_001351834.1:p.Arg2843=
ENST00000651943.2:c.8529G>T MANE Select ENSP00000498582.2:p.Arg2843=
NM_001199282.2:c.8526G>T NP_001186211.2:p.Arg2842=
NM_001367550.1:c.8544G>T NP_001354479.1:p.Arg2848=
NM_006726.4:c.8562G>T NP_006717.2:p.Arg2854=
ENST00000357115.7:c.8562G>T ENSP00000349629.3:p.Arg2854=
ENST00000357115.9:c.8562G>T ENSP00000349629.3:p.Arg2854=
ENST00000503716.5:n.2619G>T
ENST00000508606.1:c.447G>T
ENST00000509835.5:c.4487G>T
ENST00000510157.1:n.910G>T
ENST00000510157.2:n.1145G>T
ENST00000510413.5:c.8526G>T ENSP00000421552.1:p.Arg2842=
ENST00000515096.5:n.1821G>T
ENST00000515096.6:n.5199G>T
ENST00000648626.1:n.2994G>T
ENST00000648823.1:c.2259G>T
ENST00000648878.1:c.2065G>T ENSP00000497002.1:n.2065G>T
ENST00000651035.1:c.*2890G>T ENSP00000498673.1:n.*2890G>T
ENST00000651695.1:c.6258G>T ENSP00000498254.1:p.Arg2086=
ENST00000651695.2:c.8544G>T ENSP00000498254.2:p.Arg2848=
ENST00000697127.1:c.2202G>T ENSP00000513124.1:p.Arg734=
ENST00000697128.1:c.2878G>T
XM_005263372.2:c.8577G>T XP_005263429.1:p.Arg2859=
XM_005263372.3:c.8577G>T XP_005263429.1:p.Arg2859=
XM_005263373.1:c.8577G>T XP_005263430.1:p.Arg2859=
XM_005263373.3:c.8577G>T XP_005263430.1:p.Arg2859=
XM_005263374.2:c.8544G>T XP_005263431.1:p.Arg2848=
XM_005263374.3:c.8544G>T XP_005263431.1:p.Arg2848=
XM_005263375.2:c.8529G>T XP_005263432.1:p.Arg2843=
XM_011532434.1:c.8562G>T XP_011530736.1:p.Arg2854=
XM_011532434.2:c.8562G>T XP_011530736.1:p.Arg2854=
XM_017008872.2:c.8544G>T XP_016864361.1:p.Arg2848=
XM_017008873.2:c.2247G>T XP_016864362.1:p.Arg749=
XM_017008874.1:c.2241G>T XP_016864363.1:p.Arg747=