Canonical Allele Identifier: CA108318836

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150302777A>G , CM000666.2:g.150302777A>G	GRCh38
NC_000004.11:g.151223929A>G , CM000666.1:g.151223929A>G	GRCh37
NC_000004.10:g.151443379A>G	NCBI36
NG_032855.1:g.717721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510157.2:n.481T>C
ENST00000515096.6:n.4535T>C
ENST00000651695.2:c.7880T>C	ENSP00000498254.2:p.Val2627Ala
ENST00000697127.1:c.1538T>C	ENSP00000513124.1:p.Val513Ala
ENST00000697128.1:c.2217T>C
ENST00000697130.1:n.265T>C
ENST00000357115.9:c.7898T>C	ENSP00000349629.3:p.Val2633Ala
ENST00000648626.1:n.2330T>C
ENST00000648823.1:c.1595T>C
ENST00000648878.1:c.1358T>C	ENSP00000497002.1:p.Val453Ala
ENST00000651035.1:c.*2226T>C	ENSP00000498673.1:n.*2226T>C
ENST00000651695.1:c.5594T>C	ENSP00000498254.1:p.Val1865Ala
ENST00000651943.2:c.7865T>C MANE Select	ENSP00000498582.2:p.Val2622Ala
ENST00000357115.7:c.7898T>C	ENSP00000349629.3:p.Val2633Ala
ENST00000503716.5:n.1955T>C
ENST00000509835.5:c.3823T>C
ENST00000510157.1:n.246T>C
ENST00000510413.5:c.7865T>C	ENSP00000421552.1:p.Val2622Ala
ENST00000515096.5:n.1157T>C
NM_001199282.2:c.7865T>C	NP_001186211.2:p.Val2622Ala
NM_006726.4:c.7898T>C	NP_006717.2:p.Val2633Ala
XM_005263372.2:c.7913T>C	XP_005263429.1:p.Val2638Ala
XM_005263373.1:c.7913T>C	XP_005263430.1:p.Val2638Ala
XM_005263374.2:c.7880T>C	XP_005263431.1:p.Val2627Ala
XM_005263375.2:c.7865T>C	XP_005263432.1:p.Val2622Ala
XM_011532434.1:c.7898T>C	XP_011530736.1:p.Val2633Ala
NM_001364905.1:c.7865T>C MANE Select	NP_001351834.1:p.Val2622Ala
XM_005263372.3:c.7913T>C	XP_005263429.1:p.Val2638Ala
XM_005263373.3:c.7913T>C	XP_005263430.1:p.Val2638Ala
XM_005263374.3:c.7880T>C	XP_005263431.1:p.Val2627Ala
XM_011532434.2:c.7898T>C	XP_011530736.1:p.Val2633Ala
XM_017008872.2:c.7880T>C	XP_016864361.1:p.Val2627Ala
XM_017008873.2:c.1583T>C	XP_016864362.1:p.Val528Ala
XM_017008874.1:c.1577T>C	XP_016864363.1:p.Val526Ala
NM_001367550.1:c.7880T>C	NP_001354479.1:p.Val2627Ala