Canonical Allele Identifier: CA441759311

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150277927C>T , CM000666.2:g.150277927C>T	GRCh38
NC_000004.11:g.151199079C>T , CM000666.1:g.151199079C>T	GRCh37
NC_000004.10:g.151418529C>T	NCBI36
NG_032855.1:g.742571G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.8394G>A MANE Select	NP_001351834.1:p.Ser2798=
ENST00000651943.2:c.8394G>A MANE Select	ENSP00000498582.2:p.Ser2798=
NM_001199282.2:c.8391G>A	NP_001186211.2:p.Ser2797=
NM_001367550.1:c.8409G>A	NP_001354479.1:p.Ser2803=
NM_006726.4:c.8427G>A	NP_006717.2:p.Ser2809=
ENST00000357115.7:c.8427G>A	ENSP00000349629.3:p.Ser2809=
ENST00000357115.9:c.8427G>A	ENSP00000349629.3:p.Ser2809=
ENST00000503716.5:n.2484G>A
ENST00000508606.1:c.386+4523G>A
ENST00000509835.5:c.4352G>A
ENST00000510157.1:n.775G>A
ENST00000510157.2:n.1010G>A
ENST00000510413.5:c.8391G>A	ENSP00000421552.1:p.Ser2797=
ENST00000515096.5:n.1686G>A
ENST00000515096.6:n.5064G>A
ENST00000648626.1:n.2859G>A
ENST00000648823.1:c.2124G>A
ENST00000648878.1:c.1887G>A	ENSP00000497002.1:p.Ser629=
ENST00000651035.1:c.*2755G>A	ENSP00000498673.1:n.*2755G>A
ENST00000651695.1:c.6123G>A	ENSP00000498254.1:p.Ser2041=
ENST00000651695.2:c.8409G>A	ENSP00000498254.2:p.Ser2803=
ENST00000697127.1:c.2067G>A	ENSP00000513124.1:p.Ser689=
ENST00000697128.1:c.2743G>A
XM_005263372.2:c.8442G>A	XP_005263429.1:p.Ser2814=
XM_005263372.3:c.8442G>A	XP_005263429.1:p.Ser2814=
XM_005263373.1:c.8442G>A	XP_005263430.1:p.Ser2814=
XM_005263373.3:c.8442G>A	XP_005263430.1:p.Ser2814=
XM_005263374.2:c.8409G>A	XP_005263431.1:p.Ser2803=
XM_005263374.3:c.8409G>A	XP_005263431.1:p.Ser2803=
XM_005263375.2:c.8394G>A	XP_005263432.1:p.Ser2798=
XM_011532434.1:c.8427G>A	XP_011530736.1:p.Ser2809=
XM_011532434.2:c.8427G>A	XP_011530736.1:p.Ser2809=
XM_017008872.2:c.8409G>A	XP_016864361.1:p.Ser2803=
XM_017008873.2:c.2112G>A	XP_016864362.1:p.Ser704=
XM_017008874.1:c.2106G>A	XP_016864363.1:p.Ser702=