Canonical Allele Identifier: CA358438810
Community Standard Title: NM_001364905.1(LRBA):c.8364C>G (p.Asp2788Glu)
Gene: LRBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150277957G>C , CM000666.2:g.150277957G>C GRCh38
NC_000004.11:g.151199109G>C , CM000666.1:g.151199109G>C GRCh37
NC_000004.10:g.151418559G>C NCBI36
NG_032855.1:g.742541C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001364905.1:c.8364C>G MANE Select NP_001351834.1:p.Asp2788Glu
ENST00000651943.2:c.8364C>G MANE Select ENSP00000498582.2:p.Asp2788Glu
NM_001199282.2:c.8361C>G NP_001186211.2:p.Asp2787Glu
NM_001367550.1:c.8379C>G NP_001354479.1:p.Asp2793Glu
NM_006726.4:c.8397C>G NP_006717.2:p.Asp2799Glu
ENST00000357115.7:c.8397C>G ENSP00000349629.3:p.Asp2799Glu
ENST00000357115.9:c.8397C>G ENSP00000349629.3:p.Asp2799Glu
ENST00000503716.5:n.2454C>G
ENST00000508606.1:c.386+4493C>G
ENST00000509835.5:c.4322C>G
ENST00000510157.1:n.745C>G
ENST00000510157.2:n.980C>G
ENST00000510413.5:c.8361C>G ENSP00000421552.1:p.Asp2787Glu
ENST00000515096.5:n.1656C>G
ENST00000515096.6:n.5034C>G
ENST00000648626.1:n.2829C>G
ENST00000648823.1:c.2094C>G
ENST00000648878.1:c.1857C>G ENSP00000497002.1:p.Asp619Glu
ENST00000651035.1:c.*2725C>G ENSP00000498673.1:n.*2725C>G
ENST00000651695.1:c.6093C>G ENSP00000498254.1:p.Asp2031Glu
ENST00000651695.2:c.8379C>G ENSP00000498254.2:p.Asp2793Glu
ENST00000697127.1:c.2037C>G ENSP00000513124.1:p.Asp679Glu
ENST00000697128.1:c.2713C>G
XM_005263372.2:c.8412C>G XP_005263429.1:p.Asp2804Glu
XM_005263372.3:c.8412C>G XP_005263429.1:p.Asp2804Glu
XM_005263373.1:c.8412C>G XP_005263430.1:p.Asp2804Glu
XM_005263373.3:c.8412C>G XP_005263430.1:p.Asp2804Glu
XM_005263374.2:c.8379C>G XP_005263431.1:p.Asp2793Glu
XM_005263374.3:c.8379C>G XP_005263431.1:p.Asp2793Glu
XM_005263375.2:c.8364C>G XP_005263432.1:p.Asp2788Glu
XM_011532434.1:c.8397C>G XP_011530736.1:p.Asp2799Glu
XM_011532434.2:c.8397C>G XP_011530736.1:p.Asp2799Glu
XM_017008872.2:c.8379C>G XP_016864361.1:p.Asp2793Glu
XM_017008873.2:c.2082C>G XP_016864362.1:p.Asp694Glu
XM_017008874.1:c.2076C>G XP_016864363.1:p.Asp692Glu