Canonical Allele Identifier: CA3101512

Gene: LRBA

Linked Data

• ClinVar Variation Id: 403049
• ClinVar RCV Id: RCV001515470 ; RCV001613274
• dbSNP Id: rs1813134
• ExAC: 4:151231371 T / C
• gnomAD v2: 4-151231371-T-C
• gnomAD v3: 4-150310219-T-C
• gnomAD v4: 4-150310219-T-C
• MyVariant Identifiers: chr4:g.151231371T>C (hg19) ; chr4:g.150310219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150310219T>C , CM000666.2:g.150310219T>C	GRCh38
NC_000004.11:g.151231371T>C , CM000666.1:g.151231371T>C	GRCh37
NC_000004.10:g.151450821T>C	NCBI36
NG_032855.1:g.710279A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000510157.2:n.465+10A>G
ENST00000515096.6:n.4519+10A>G
ENST00000651695.2:c.7864+10A>G	ENSP00000498254.2:n.7864+10A>G
ENST00000697127.1:c.1522+10A>G	ENSP00000513124.1:n.1522+10A>G
ENST00000697128.1:c.2201+10A>G
ENST00000697130.1:n.249+10A>G
ENST00000357115.9:c.7882+10A>G	ENSP00000349629.3:n.7882+10A>G
ENST00000648626.1:n.2314+10A>G
ENST00000648823.1:c.1579+10A>G
ENST00000648878.1:c.1342+10A>G	ENSP00000497002.1:n.1342+10A>G
ENST00000651035.1:c.*2210+10A>G	ENSP00000498673.1:n.*2210+10A>G
ENST00000651695.1:c.5578+10A>G	ENSP00000498254.1:n.5578+10A>G
ENST00000651943.2:c.7849+10A>G MANE Select	ENSP00000498582.2:n.7849+10A>G
ENST00000357115.7:c.7882+10A>G	ENSP00000349629.3:n.7882+10A>G
ENST00000503716.5:n.1939+10A>G
ENST00000509835.5:c.3807+10A>G
ENST00000510157.1:n.230+10A>G
ENST00000510413.5:c.7849+10A>G	ENSP00000421552.1:n.7849+10A>G
ENST00000515096.5:n.1141+10A>G
NM_001199282.2:c.7849+10A>G	NP_001186211.2:n.7849+10A>G
NM_006726.4:c.7882+10A>G	NP_006717.2:n.7882+10A>G
XM_005263372.2:c.7897+10A>G	XP_005263429.1:n.7897+10A>G
XM_005263373.1:c.7897+10A>G	XP_005263430.1:n.7897+10A>G
XM_005263374.2:c.7864+10A>G	XP_005263431.1:n.7864+10A>G
XM_005263375.2:c.7849+10A>G	XP_005263432.1:n.7849+10A>G
XM_011532434.1:c.7882+10A>G	XP_011530736.1:n.7882+10A>G
NM_001364905.1:c.7849+10A>G MANE Select	NP_001351834.1:n.7849+10A>G
XM_005263372.3:c.7897+10A>G	XP_005263429.1:n.7897+10A>G
XM_005263373.3:c.7897+10A>G	XP_005263430.1:n.7897+10A>G
XM_005263374.3:c.7864+10A>G	XP_005263431.1:n.7864+10A>G
XM_011532434.2:c.7882+10A>G	XP_011530736.1:n.7882+10A>G
XM_017008872.2:c.7864+10A>G	XP_016864361.1:n.7864+10A>G
XM_017008873.2:c.1567+10A>G	XP_016864362.1:n.1567+10A>G
XM_017008874.1:c.1561+10A>G	XP_016864363.1:n.1561+10A>G
NM_001367550.1:c.7864+10A>G	NP_001354479.1:n.7864+10A>G