Canonical Allele Identifier: CA358440367

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150282581A>T , CM000666.2:g.150282581A>T	GRCh38
NC_000004.11:g.151203733A>T , CM000666.1:g.151203733A>T	GRCh37
NC_000004.10:g.151423183A>T	NCBI36
NG_032855.1:g.737917T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510157.2:n.801T>A
ENST00000515096.6:n.4855T>A
ENST00000651695.2:c.8200T>A	ENSP00000498254.2:p.Cys2734Ser
ENST00000697127.1:c.1858T>A	ENSP00000513124.1:p.Cys620Ser
ENST00000697128.1:c.2534T>A
ENST00000697130.1:n.582T>A
ENST00000357115.9:c.8218T>A	ENSP00000349629.3:p.Cys2740Ser
ENST00000648626.1:n.2650T>A
ENST00000648823.1:c.1915T>A
ENST00000648878.1:c.1678T>A	ENSP00000497002.1:p.Cys560Ser
ENST00000651035.1:c.*2546T>A	ENSP00000498673.1:n.*2546T>A
ENST00000651695.1:c.5914T>A	ENSP00000498254.1:p.Cys1972Ser
ENST00000651943.2:c.8185T>A MANE Select	ENSP00000498582.2:p.Cys2729Ser
ENST00000357115.7:c.8218T>A	ENSP00000349629.3:p.Cys2740Ser
ENST00000503716.5:n.2275T>A
ENST00000508606.1:c.255T>A
ENST00000509835.5:c.4143T>A
ENST00000510157.1:n.566T>A
ENST00000510413.5:c.8182T>A	ENSP00000421552.1:p.Cys2728Ser
ENST00000515096.5:n.1477T>A
NM_001199282.2:c.8182T>A	NP_001186211.2:p.Cys2728Ser
NM_006726.4:c.8218T>A	NP_006717.2:p.Cys2740Ser
XM_005263372.2:c.8233T>A	XP_005263429.1:p.Cys2745Ser
XM_005263373.1:c.8233T>A	XP_005263430.1:p.Cys2745Ser
XM_005263374.2:c.8200T>A	XP_005263431.1:p.Cys2734Ser
XM_005263375.2:c.8185T>A	XP_005263432.1:p.Cys2729Ser
XM_011532434.1:c.8218T>A	XP_011530736.1:p.Cys2740Ser
NM_001364905.1:c.8185T>A MANE Select	NP_001351834.1:p.Cys2729Ser
XM_005263372.3:c.8233T>A	XP_005263429.1:p.Cys2745Ser
XM_005263373.3:c.8233T>A	XP_005263430.1:p.Cys2745Ser
XM_005263374.3:c.8200T>A	XP_005263431.1:p.Cys2734Ser
XM_011532434.2:c.8218T>A	XP_011530736.1:p.Cys2740Ser
XM_017008872.2:c.8200T>A	XP_016864361.1:p.Cys2734Ser
XM_017008873.2:c.1903T>A	XP_016864362.1:p.Cys635Ser
XM_017008874.1:c.1897T>A	XP_016864363.1:p.Cys633Ser
NM_001367550.1:c.8200T>A	NP_001354479.1:p.Cys2734Ser