Canonical Allele Identifier: CA3101346

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150277890C>T , CM000666.2:g.150277890C>T	GRCh38
NC_000004.11:g.151199042C>T , CM000666.1:g.151199042C>T	GRCh37
NC_000004.10:g.151418492C>T	NCBI36
NG_032855.1:g.742608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510157.2:n.1047G>A
ENST00000515096.6:n.5101G>A
ENST00000651695.2:c.8446G>A	ENSP00000498254.2:p.Ala2816Thr
ENST00000697127.1:c.2104G>A	ENSP00000513124.1:p.Ala702Thr
ENST00000697128.1:c.2780G>A
ENST00000357115.9:c.8464G>A	ENSP00000349629.3:p.Ala2822Thr
ENST00000648626.1:n.2896G>A
ENST00000648823.1:c.2161G>A
ENST00000648878.1:c.1924G>A	ENSP00000497002.1:p.Ala642Thr
ENST00000651035.1:c.*2792G>A	ENSP00000498673.1:n.*2792G>A
ENST00000651695.1:c.6160G>A	ENSP00000498254.1:p.Ala2054Thr
ENST00000651943.2:c.8431G>A MANE Select	ENSP00000498582.2:p.Ala2811Thr
ENST00000357115.7:c.8464G>A	ENSP00000349629.3:p.Ala2822Thr
ENST00000503716.5:n.2521G>A
ENST00000508606.1:c.386+4560G>A
ENST00000509835.5:c.4389G>A
ENST00000510157.1:n.812G>A
ENST00000510413.5:c.8428G>A	ENSP00000421552.1:p.Ala2810Thr
ENST00000515096.5:n.1723G>A
NM_001199282.2:c.8428G>A	NP_001186211.2:p.Ala2810Thr
NM_006726.4:c.8464G>A	NP_006717.2:p.Ala2822Thr
XM_005263372.2:c.8479G>A	XP_005263429.1:p.Ala2827Thr
XM_005263373.1:c.8479G>A	XP_005263430.1:p.Ala2827Thr
XM_005263374.2:c.8446G>A	XP_005263431.1:p.Ala2816Thr
XM_005263375.2:c.8431G>A	XP_005263432.1:p.Ala2811Thr
XM_011532434.1:c.8464G>A	XP_011530736.1:p.Ala2822Thr
NM_001364905.1:c.8431G>A MANE Select	NP_001351834.1:p.Ala2811Thr
XM_005263372.3:c.8479G>A	XP_005263429.1:p.Ala2827Thr
XM_005263373.3:c.8479G>A	XP_005263430.1:p.Ala2827Thr
XM_005263374.3:c.8446G>A	XP_005263431.1:p.Ala2816Thr
XM_011532434.2:c.8464G>A	XP_011530736.1:p.Ala2822Thr
XM_017008872.2:c.8446G>A	XP_016864361.1:p.Ala2816Thr
XM_017008873.2:c.2149G>A	XP_016864362.1:p.Ala717Thr
XM_017008874.1:c.2143G>A	XP_016864363.1:p.Ala715Thr
NM_001367550.1:c.8446G>A	NP_001354479.1:p.Ala2816Thr