Canonical Allele Identifier: CA3101405

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150282510G>A , CM000666.2:g.150282510G>A	GRCh38
NC_000004.11:g.151203662G>A , CM000666.1:g.151203662G>A	GRCh37
NC_000004.10:g.151423112G>A	NCBI36
NG_032855.1:g.737988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510157.2:n.872C>T
ENST00000515096.6:n.4926C>T
ENST00000651695.2:c.8271C>T	ENSP00000498254.2:p.Phe2757=
ENST00000697127.1:c.1929C>T	ENSP00000513124.1:p.Phe643=
ENST00000697128.1:c.2605C>T
ENST00000697130.1:n.653C>T
ENST00000357115.9:c.8289C>T	ENSP00000349629.3:p.Phe2763=
ENST00000648626.1:n.2721C>T
ENST00000648823.1:c.1986C>T
ENST00000648878.1:c.1749C>T	ENSP00000497002.1:p.Phe583=
ENST00000651035.1:c.*2617C>T	ENSP00000498673.1:n.*2617C>T
ENST00000651695.1:c.5985C>T	ENSP00000498254.1:p.Phe1995=
ENST00000651943.2:c.8256C>T MANE Select	ENSP00000498582.2:p.Phe2752=
ENST00000357115.7:c.8289C>T	ENSP00000349629.3:p.Phe2763=
ENST00000503716.5:n.2346C>T
ENST00000508606.1:c.326C>T
ENST00000509835.5:c.4214C>T
ENST00000510157.1:n.637C>T
ENST00000510413.5:c.8253C>T	ENSP00000421552.1:p.Phe2751=
ENST00000515096.5:n.1548C>T
NM_001199282.2:c.8253C>T	NP_001186211.2:p.Phe2751=
NM_006726.4:c.8289C>T	NP_006717.2:p.Phe2763=
XM_005263372.2:c.8304C>T	XP_005263429.1:p.Phe2768=
XM_005263373.1:c.8304C>T	XP_005263430.1:p.Phe2768=
XM_005263374.2:c.8271C>T	XP_005263431.1:p.Phe2757=
XM_005263375.2:c.8256C>T	XP_005263432.1:p.Phe2752=
XM_011532434.1:c.8289C>T	XP_011530736.1:p.Phe2763=
NM_001364905.1:c.8256C>T MANE Select	NP_001351834.1:p.Phe2752=
XM_005263372.3:c.8304C>T	XP_005263429.1:p.Phe2768=
XM_005263373.3:c.8304C>T	XP_005263430.1:p.Phe2768=
XM_005263374.3:c.8271C>T	XP_005263431.1:p.Phe2757=
XM_011532434.2:c.8289C>T	XP_011530736.1:p.Phe2763=
XM_017008872.2:c.8271C>T	XP_016864361.1:p.Phe2757=
XM_017008873.2:c.1974C>T	XP_016864362.1:p.Phe658=
XM_017008874.1:c.1968C>T	XP_016864363.1:p.Phe656=
NM_001367550.1:c.8271C>T	NP_001354479.1:p.Phe2757=