Canonical Allele Identifier: CA441870797

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150490942G>A , CM000666.2:g.150490942G>A	GRCh38
NC_000004.11:g.151412094G>A , CM000666.1:g.151412094G>A	GRCh37
NC_000004.10:g.151631544G>A	NCBI36
NG_032855.1:g.529556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.6424C>T	ENSP00000498254.2:p.Leu2142=
ENST00000697127.1:c.97C>T	ENSP00000513124.1:p.Leu33=
ENST00000697128.1:c.776C>T
ENST00000357115.9:c.6457C>T	ENSP00000349629.3:p.Leu2153=
ENST00000648626.1:n.1492-75352C>T
ENST00000651035.1:c.*785C>T	ENSP00000498673.1:n.*785C>T
ENST00000651695.1:c.4138C>T	ENSP00000498254.1:p.Leu1380=
ENST00000651943.2:c.6424C>T MANE Select	ENSP00000498582.2:p.Leu2142=
ENST00000357115.7:c.6457C>T	ENSP00000349629.3:p.Leu2153=
ENST00000503716.5:n.499C>T
ENST00000507224.5:c.6424C>T	ENSP00000422180.1:p.Leu2142=
ENST00000509835.5:c.2382C>T
ENST00000510413.5:c.6424C>T	ENSP00000421552.1:p.Leu2142=
NM_001199282.2:c.6424C>T	NP_001186211.2:p.Leu2142=
NM_006726.4:c.6457C>T	NP_006717.2:p.Leu2153=
XM_005263372.2:c.6457C>T	XP_005263429.1:p.Leu2153=
XM_005263373.1:c.6457C>T	XP_005263430.1:p.Leu2153=
XM_005263374.2:c.6424C>T	XP_005263431.1:p.Leu2142=
XM_005263375.2:c.6424C>T	XP_005263432.1:p.Leu2142=
XM_011532434.1:c.6457C>T	XP_011530736.1:p.Leu2153=
NM_001364905.1:c.6424C>T MANE Select	NP_001351834.1:p.Leu2142=
XM_005263372.3:c.6457C>T	XP_005263429.1:p.Leu2153=
XM_005263373.3:c.6457C>T	XP_005263430.1:p.Leu2153=
XM_005263374.3:c.6424C>T	XP_005263431.1:p.Leu2142=
XM_011532434.2:c.6457C>T	XP_011530736.1:p.Leu2153=
XM_017008872.2:c.6424C>T	XP_016864361.1:p.Leu2142=
XM_017008873.2:c.127C>T	XP_016864362.1:p.Leu43=
XM_017008874.1:c.121C>T	XP_016864363.1:p.Leu41=
NM_001367550.1:c.6424C>T	NP_001354479.1:p.Leu2142=