Canonical Allele Identifier: CA441760199

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150286021A>G , CM000666.2:g.150286021A>G	GRCh38
NC_000004.11:g.151207173A>G , CM000666.1:g.151207173A>G	GRCh37
NC_000004.10:g.151426623A>G	NCBI36
NG_032855.1:g.734477T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.8031T>C MANE Select	NP_001351834.1:p.Ala2677=
ENST00000651943.2:c.8031T>C MANE Select	ENSP00000498582.2:p.Ala2677=
NM_001199282.2:c.8028T>C	NP_001186211.2:p.Ala2676=
NM_001367550.1:c.8046T>C	NP_001354479.1:p.Ala2682=
NM_006726.4:c.8064T>C	NP_006717.2:p.Ala2688=
ENST00000357115.7:c.8064T>C	ENSP00000349629.3:p.Ala2688=
ENST00000357115.9:c.8064T>C	ENSP00000349629.3:p.Ala2688=
ENST00000503716.5:n.2121T>C
ENST00000508606.1:c.101T>C
ENST00000509835.5:c.3989T>C
ENST00000510157.1:n.412T>C
ENST00000510157.2:n.647T>C
ENST00000510413.5:c.8028T>C	ENSP00000421552.1:p.Ala2676=
ENST00000515096.5:n.1323T>C
ENST00000515096.6:n.4701T>C
ENST00000648626.1:n.2496T>C
ENST00000648823.1:c.1761T>C
ENST00000648878.1:c.1524T>C	ENSP00000497002.1:p.Ala508=
ENST00000651035.1:c.*2392T>C	ENSP00000498673.1:n.*2392T>C
ENST00000651695.1:c.5760T>C	ENSP00000498254.1:p.Ala1920=
ENST00000651695.2:c.8046T>C	ENSP00000498254.2:p.Ala2682=
ENST00000697127.1:c.1704T>C	ENSP00000513124.1:p.Ala568=
ENST00000697128.1:c.2383T>C
ENST00000697130.1:n.431T>C
XM_005263372.2:c.8079T>C	XP_005263429.1:p.Ala2693=
XM_005263372.3:c.8079T>C	XP_005263429.1:p.Ala2693=
XM_005263373.1:c.8079T>C	XP_005263430.1:p.Ala2693=
XM_005263373.3:c.8079T>C	XP_005263430.1:p.Ala2693=
XM_005263374.2:c.8046T>C	XP_005263431.1:p.Ala2682=
XM_005263374.3:c.8046T>C	XP_005263431.1:p.Ala2682=
XM_005263375.2:c.8031T>C	XP_005263432.1:p.Ala2677=
XM_011532434.1:c.8064T>C	XP_011530736.1:p.Ala2688=
XM_011532434.2:c.8064T>C	XP_011530736.1:p.Ala2688=
XM_017008872.2:c.8046T>C	XP_016864361.1:p.Ala2682=
XM_017008873.2:c.1749T>C	XP_016864362.1:p.Ala583=
XM_017008874.1:c.1743T>C	XP_016864363.1:p.Ala581=