Canonical Allele Identifier: CA3103062

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150852360C>A , CM000666.2:g.150852360C>A	GRCh38
NC_000004.11:g.151773512C>A , CM000666.1:g.151773512C>A	GRCh37
NC_000004.10:g.151992962C>A	NCBI36
NG_032855.1:g.168138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.3350G>T	ENSP00000498254.2:p.Gly1117Val
ENST00000697129.1:n.1677G>T
ENST00000357115.9:c.3350G>T	ENSP00000349629.3:p.Gly1117Val
ENST00000651035.1:c.3350G>T	ENSP00000498673.1:p.Gly1117Val
ENST00000651695.1:c.1064G>T	ENSP00000498254.1:p.Gly355Val
ENST00000651943.2:c.3350G>T MANE Select	ENSP00000498582.2:p.Gly1117Val
ENST00000357115.7:c.3350G>T	ENSP00000349629.3:p.Gly1117Val
ENST00000507224.5:c.3350G>T	ENSP00000422180.1:p.Gly1117Val
ENST00000510413.5:c.3350G>T	ENSP00000421552.1:p.Gly1117Val
NM_001199282.2:c.3350G>T	NP_001186211.2:p.Gly1117Val
NM_006726.4:c.3350G>T	NP_006717.2:p.Gly1117Val
XM_005263372.2:c.3350G>T	XP_005263429.1:p.Gly1117Val
XM_005263373.1:c.3350G>T	XP_005263430.1:p.Gly1117Val
XM_005263374.2:c.3350G>T	XP_005263431.1:p.Gly1117Val
XM_005263375.2:c.3350G>T	XP_005263432.1:p.Gly1117Val
XM_005263377.2:c.3350G>T	XP_005263434.1:p.Gly1117Val
XM_011532434.1:c.3350G>T	XP_011530736.1:p.Gly1117Val
NM_001364905.1:c.3350G>T MANE Select	NP_001351834.1:p.Gly1117Val
XM_005263372.3:c.3350G>T	XP_005263429.1:p.Gly1117Val
XM_005263373.3:c.3350G>T	XP_005263430.1:p.Gly1117Val
XM_005263374.3:c.3350G>T	XP_005263431.1:p.Gly1117Val
XM_011532434.2:c.3350G>T	XP_011530736.1:p.Gly1117Val
XM_017008872.2:c.3350G>T	XP_016864361.1:p.Gly1117Val
NM_001367550.1:c.3350G>T	NP_001354479.1:p.Gly1117Val