Canonical Allele Identifier: CA2580071613

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150277834C>T , CM000666.2:g.150277834C>T	GRCh38
NC_000004.11:g.151198986C>T , CM000666.1:g.151198986C>T	GRCh37
NC_000004.10:g.151418436C>T	NCBI36
NG_032855.1:g.742664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510157.2:n.1084+19G>A
ENST00000515096.6:n.5138+19G>A
ENST00000651695.2:c.8483+19G>A	ENSP00000498254.2:n.8483+19G>A
ENST00000697127.1:c.2141+19G>A	ENSP00000513124.1:n.2141+19G>A
ENST00000697128.1:c.2817+19G>A
ENST00000357115.9:c.8501+19G>A	ENSP00000349629.3:n.8501+19G>A
ENST00000648626.1:n.2933+19G>A
ENST00000648823.1:c.2198+19G>A
ENST00000648878.1:c.1961+19G>A	ENSP00000497002.1:n.1961+19G>A
ENST00000651035.1:c.*2829+19G>A	ENSP00000498673.1:n.*2829+19G>A
ENST00000651695.1:c.6197+19G>A	ENSP00000498254.1:n.6197+19G>A
ENST00000651943.2:c.8468+19G>A MANE Select	ENSP00000498582.2:n.8468+19G>A
ENST00000357115.7:c.8501+19G>A	ENSP00000349629.3:n.8501+19G>A
ENST00000503716.5:n.2558+19G>A
ENST00000508606.1:c.386+4616G>A
ENST00000509835.5:c.4426+19G>A
ENST00000510157.1:n.849+19G>A
ENST00000510413.5:c.8465+19G>A	ENSP00000421552.1:n.8465+19G>A
ENST00000515096.5:n.1760+19G>A
NM_001199282.2:c.8465+19G>A	NP_001186211.2:n.8465+19G>A
NM_006726.4:c.8501+19G>A	NP_006717.2:n.8501+19G>A
XM_005263372.2:c.8516+19G>A	XP_005263429.1:n.8516+19G>A
XM_005263373.1:c.8516+19G>A	XP_005263430.1:n.8516+19G>A
XM_005263374.2:c.8483+19G>A	XP_005263431.1:n.8483+19G>A
XM_005263375.2:c.8468+19G>A	XP_005263432.1:n.8468+19G>A
XM_011532434.1:c.8501+19G>A	XP_011530736.1:n.8501+19G>A
NM_001364905.1:c.8468+19G>A MANE Select	NP_001351834.1:n.8468+19G>A
XM_005263372.3:c.8516+19G>A	XP_005263429.1:n.8516+19G>A
XM_005263373.3:c.8516+19G>A	XP_005263430.1:n.8516+19G>A
XM_005263374.3:c.8483+19G>A	XP_005263431.1:n.8483+19G>A
XM_011532434.2:c.8501+19G>A	XP_011530736.1:n.8501+19G>A
XM_017008872.2:c.8483+19G>A	XP_016864361.1:n.8483+19G>A
XM_017008873.2:c.2186+19G>A	XP_016864362.1:n.2186+19G>A
XM_017008874.1:c.2180+19G>A	XP_016864363.1:n.2180+19G>A
NM_001367550.1:c.8483+19G>A	NP_001354479.1:n.8483+19G>A