Canonical Allele Identifier: CA358450586

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150844147G>A , CM000666.2:g.150844147G>A	GRCh38
NC_000004.11:g.151765299G>A , CM000666.1:g.151765299G>A	GRCh37
NC_000004.10:g.151984749G>A	NCBI36
NG_032855.1:g.176351C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.4522C>T MANE Select	NP_001351834.1:p.Gln1508Ter
ENST00000651943.2:c.4522C>T MANE Select	ENSP00000498582.2:p.Gln1508Ter
NM_001199282.2:c.4522C>T	NP_001186211.2:p.Gln1508Ter
NM_001367550.1:c.4522C>T	NP_001354479.1:p.Gln1508Ter
NM_006726.4:c.4522C>T	NP_006717.2:p.Gln1508Ter
ENST00000357115.7:c.4522C>T	ENSP00000349629.3:p.Gln1508Ter
ENST00000357115.9:c.4522C>T	ENSP00000349629.3:p.Gln1508Ter
ENST00000502839.1:c.253C>T	ENSP00000424640.1:p.Gln85Ter
ENST00000507224.5:c.4522C>T	ENSP00000422180.1:p.Gln1508Ter
ENST00000509835.5:c.480C>T
ENST00000510413.5:c.4522C>T	ENSP00000421552.1:p.Gln1508Ter
ENST00000651035.1:c.4522C>T	ENSP00000498673.1:p.Gln1508Ter
ENST00000651695.1:c.2236C>T	ENSP00000498254.1:p.Gln746Ter
ENST00000651695.2:c.4522C>T	ENSP00000498254.2:p.Gln1508Ter
ENST00000697129.1:n.2849C>T
XM_005263372.2:c.4522C>T	XP_005263429.1:p.Gln1508Ter
XM_005263372.3:c.4522C>T	XP_005263429.1:p.Gln1508Ter
XM_005263373.1:c.4522C>T	XP_005263430.1:p.Gln1508Ter
XM_005263373.3:c.4522C>T	XP_005263430.1:p.Gln1508Ter
XM_005263374.2:c.4522C>T	XP_005263431.1:p.Gln1508Ter
XM_005263374.3:c.4522C>T	XP_005263431.1:p.Gln1508Ter
XM_005263375.2:c.4522C>T	XP_005263432.1:p.Gln1508Ter
XM_005263377.2:c.4522C>T	XP_005263434.1:p.Gln1508Ter
XM_011532434.1:c.4522C>T	XP_011530736.1:p.Gln1508Ter
XM_011532434.2:c.4522C>T	XP_011530736.1:p.Gln1508Ter
XM_017008872.2:c.4522C>T	XP_016864361.1:p.Gln1508Ter