Canonical Allele Identifier: CA3101401

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150282474C>T , CM000666.2:g.150282474C>T	GRCh38
NC_000004.11:g.151203626C>T , CM000666.1:g.151203626C>T	GRCh37
NC_000004.10:g.151423076C>T	NCBI36
NG_032855.1:g.738024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510157.2:n.908G>A
ENST00000515096.6:n.4962G>A
ENST00000651695.2:c.8307G>A	ENSP00000498254.2:p.Thr2769=
ENST00000697127.1:c.1965G>A	ENSP00000513124.1:p.Thr655=
ENST00000697128.1:c.2641G>A
ENST00000357115.9:c.8325G>A	ENSP00000349629.3:p.Thr2775=
ENST00000648626.1:n.2757G>A
ENST00000648823.1:c.2022G>A
ENST00000648878.1:c.1785G>A	ENSP00000497002.1:p.Thr595=
ENST00000651035.1:c.*2653G>A	ENSP00000498673.1:n.*2653G>A
ENST00000651695.1:c.6021G>A	ENSP00000498254.1:p.Thr2007=
ENST00000651943.2:c.8292G>A MANE Select	ENSP00000498582.2:p.Thr2764=
ENST00000357115.7:c.8325G>A	ENSP00000349629.3:p.Thr2775=
ENST00000503716.5:n.2382G>A
ENST00000508606.1:c.362G>A
ENST00000509835.5:c.4250G>A
ENST00000510157.1:n.673G>A
ENST00000510413.5:c.8289G>A	ENSP00000421552.1:p.Thr2763=
ENST00000515096.5:n.1584G>A
NM_001199282.2:c.8289G>A	NP_001186211.2:p.Thr2763=
NM_006726.4:c.8325G>A	NP_006717.2:p.Thr2775=
XM_005263372.2:c.8340G>A	XP_005263429.1:p.Thr2780=
XM_005263373.1:c.8340G>A	XP_005263430.1:p.Thr2780=
XM_005263374.2:c.8307G>A	XP_005263431.1:p.Thr2769=
XM_005263375.2:c.8292G>A	XP_005263432.1:p.Thr2764=
XM_011532434.1:c.8325G>A	XP_011530736.1:p.Thr2775=
NM_001364905.1:c.8292G>A MANE Select	NP_001351834.1:p.Thr2764=
XM_005263372.3:c.8340G>A	XP_005263429.1:p.Thr2780=
XM_005263373.3:c.8340G>A	XP_005263430.1:p.Thr2780=
XM_005263374.3:c.8307G>A	XP_005263431.1:p.Thr2769=
XM_011532434.2:c.8325G>A	XP_011530736.1:p.Thr2775=
XM_017008872.2:c.8307G>A	XP_016864361.1:p.Thr2769=
XM_017008873.2:c.2010G>A	XP_016864362.1:p.Thr670=
XM_017008874.1:c.2004G>A	XP_016864363.1:p.Thr668=
NM_001367550.1:c.8307G>A	NP_001354479.1:p.Thr2769=