Canonical Allele Identifier: CA358436818

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150265784T>G , CM000666.2:g.150265784T>G	GRCh38
NC_000004.11:g.151186936T>G , CM000666.1:g.151186936T>G	GRCh37
NC_000004.10:g.151406386T>G	NCBI36
NG_032855.1:g.754714A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.8497A>C MANE Select	NP_001351834.1:p.Ser2833Arg
ENST00000651943.2:c.8497A>C MANE Select	ENSP00000498582.2:p.Ser2833Arg
NM_001199282.2:c.8494A>C	NP_001186211.2:p.Ser2832Arg
NM_001367550.1:c.8512A>C	NP_001354479.1:p.Ser2838Arg
NM_006726.4:c.8530A>C	NP_006717.2:p.Ser2844Arg
ENST00000357115.7:c.8530A>C	ENSP00000349629.3:p.Ser2844Arg
ENST00000357115.9:c.8530A>C	ENSP00000349629.3:p.Ser2844Arg
ENST00000503716.5:n.2587A>C
ENST00000508606.1:c.415A>C
ENST00000509835.5:c.4455A>C
ENST00000510157.1:n.878A>C
ENST00000510157.2:n.1113A>C
ENST00000510413.5:c.8494A>C	ENSP00000421552.1:p.Ser2832Arg
ENST00000515096.5:n.1789A>C
ENST00000515096.6:n.5167A>C
ENST00000648626.1:n.2962A>C
ENST00000648823.1:c.2227A>C
ENST00000648878.1:c.2033A>C	ENSP00000497002.1:p.Lys678Thr
ENST00000651035.1:c.*2858A>C	ENSP00000498673.1:n.*2858A>C
ENST00000651695.1:c.6226A>C	ENSP00000498254.1:p.Ser2076Arg
ENST00000651695.2:c.8512A>C	ENSP00000498254.2:p.Ser2838Arg
ENST00000697127.1:c.2170A>C	ENSP00000513124.1:p.Ser724Arg
ENST00000697128.1:c.2846A>C
XM_005263372.2:c.8545A>C	XP_005263429.1:p.Ser2849Arg
XM_005263372.3:c.8545A>C	XP_005263429.1:p.Ser2849Arg
XM_005263373.1:c.8545A>C	XP_005263430.1:p.Ser2849Arg
XM_005263373.3:c.8545A>C	XP_005263430.1:p.Ser2849Arg
XM_005263374.2:c.8512A>C	XP_005263431.1:p.Ser2838Arg
XM_005263374.3:c.8512A>C	XP_005263431.1:p.Ser2838Arg
XM_005263375.2:c.8497A>C	XP_005263432.1:p.Ser2833Arg
XM_011532434.1:c.8530A>C	XP_011530736.1:p.Ser2844Arg
XM_011532434.2:c.8530A>C	XP_011530736.1:p.Ser2844Arg
XM_017008872.2:c.8512A>C	XP_016864361.1:p.Ser2838Arg
XM_017008873.2:c.2215A>C	XP_016864362.1:p.Ser739Arg
XM_017008874.1:c.2209A>C	XP_016864363.1:p.Ser737Arg