Canonical Allele Identifier: CA3101441

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150285964C>T , CM000666.2:g.150285964C>T	GRCh38
NC_000004.11:g.151207116C>T , CM000666.1:g.151207116C>T	GRCh37
NC_000004.10:g.151426566C>T	NCBI36
NG_032855.1:g.734534G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.8088G>A MANE Select	NP_001351834.1:p.Ala2696=
ENST00000651943.2:c.8088G>A MANE Select	ENSP00000498582.2:p.Ala2696=
NM_001199282.2:c.8085G>A	NP_001186211.2:p.Ala2695=
NM_001367550.1:c.8103G>A	NP_001354479.1:p.Ala2701=
NM_006726.4:c.8121G>A	NP_006717.2:p.Ala2707=
ENST00000357115.7:c.8121G>A	ENSP00000349629.3:p.Ala2707=
ENST00000357115.9:c.8121G>A	ENSP00000349629.3:p.Ala2707=
ENST00000503716.5:n.2178G>A
ENST00000508606.1:c.158G>A
ENST00000509835.5:c.4046G>A
ENST00000510157.1:n.469G>A
ENST00000510157.2:n.704G>A
ENST00000510413.5:c.8085G>A	ENSP00000421552.1:p.Ala2695=
ENST00000515096.5:n.1380G>A
ENST00000515096.6:n.4758G>A
ENST00000648626.1:n.2553G>A
ENST00000648823.1:c.1818G>A
ENST00000648878.1:c.1581G>A	ENSP00000497002.1:p.Ala527=
ENST00000651035.1:c.*2449G>A	ENSP00000498673.1:n.*2449G>A
ENST00000651695.1:c.5817G>A	ENSP00000498254.1:p.Ala1939=
ENST00000651695.2:c.8103G>A	ENSP00000498254.2:p.Ala2701=
ENST00000697127.1:c.1761G>A	ENSP00000513124.1:p.Ala587=
ENST00000697128.1:c.2440G>A
ENST00000697130.1:n.488G>A
XM_005263372.2:c.8136G>A	XP_005263429.1:p.Ala2712=
XM_005263372.3:c.8136G>A	XP_005263429.1:p.Ala2712=
XM_005263373.1:c.8136G>A	XP_005263430.1:p.Ala2712=
XM_005263373.3:c.8136G>A	XP_005263430.1:p.Ala2712=
XM_005263374.2:c.8103G>A	XP_005263431.1:p.Ala2701=
XM_005263374.3:c.8103G>A	XP_005263431.1:p.Ala2701=
XM_005263375.2:c.8088G>A	XP_005263432.1:p.Ala2696=
XM_011532434.1:c.8121G>A	XP_011530736.1:p.Ala2707=
XM_011532434.2:c.8121G>A	XP_011530736.1:p.Ala2707=
XM_017008872.2:c.8103G>A	XP_016864361.1:p.Ala2701=
XM_017008873.2:c.1806G>A	XP_016864362.1:p.Ala602=
XM_017008874.1:c.1800G>A	XP_016864363.1:p.Ala600=