Canonical Allele Identifier: CA3101342
Gene: LRBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.150277871G>A , CM000666.2:g.150277871G>A GRCh38
NC_000004.11:g.151199023G>A , CM000666.1:g.151199023G>A GRCh37
NC_000004.10:g.151418473G>A NCBI36
NG_032855.1:g.742627C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001364905.1:c.8450C>T MANE Select NP_001351834.1:p.Ala2817Val
ENST00000651943.2:c.8450C>T MANE Select ENSP00000498582.2:p.Ala2817Val
NM_001199282.2:c.8447C>T NP_001186211.2:p.Ala2816Val
NM_001367550.1:c.8465C>T NP_001354479.1:p.Ala2822Val
NM_006726.4:c.8483C>T NP_006717.2:p.Ala2828Val
ENST00000357115.7:c.8483C>T ENSP00000349629.3:p.Ala2828Val
ENST00000357115.9:c.8483C>T ENSP00000349629.3:p.Ala2828Val
ENST00000503716.5:n.2540C>T
ENST00000508606.1:c.386+4579C>T
ENST00000509835.5:c.4408C>T
ENST00000510157.1:n.831C>T
ENST00000510157.2:n.1066C>T
ENST00000510413.5:c.8447C>T ENSP00000421552.1:p.Ala2816Val
ENST00000515096.5:n.1742C>T
ENST00000515096.6:n.5120C>T
ENST00000648626.1:n.2915C>T
ENST00000648823.1:c.2180C>T
ENST00000648878.1:c.1943C>T ENSP00000497002.1:p.Ala648Val
ENST00000651035.1:c.*2811C>T ENSP00000498673.1:n.*2811C>T
ENST00000651695.1:c.6179C>T ENSP00000498254.1:p.Ala2060Val
ENST00000651695.2:c.8465C>T ENSP00000498254.2:p.Ala2822Val
ENST00000697127.1:c.2123C>T ENSP00000513124.1:p.Ala708Val
ENST00000697128.1:c.2799C>T
XM_005263372.2:c.8498C>T XP_005263429.1:p.Ala2833Val
XM_005263372.3:c.8498C>T XP_005263429.1:p.Ala2833Val
XM_005263373.1:c.8498C>T XP_005263430.1:p.Ala2833Val
XM_005263373.3:c.8498C>T XP_005263430.1:p.Ala2833Val
XM_005263374.2:c.8465C>T XP_005263431.1:p.Ala2822Val
XM_005263374.3:c.8465C>T XP_005263431.1:p.Ala2822Val
XM_005263375.2:c.8450C>T XP_005263432.1:p.Ala2817Val
XM_011532434.1:c.8483C>T XP_011530736.1:p.Ala2828Val
XM_011532434.2:c.8483C>T XP_011530736.1:p.Ala2828Val
XM_017008872.2:c.8465C>T XP_016864361.1:p.Ala2822Val
XM_017008873.2:c.2168C>T XP_016864362.1:p.Ala723Val
XM_017008874.1:c.2162C>T XP_016864363.1:p.Ala721Val