Canonical Allele Identifier: CA358440359

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150282580C>G , CM000666.2:g.150282580C>G	GRCh38
NC_000004.11:g.151203732C>G , CM000666.1:g.151203732C>G	GRCh37
NC_000004.10:g.151423182C>G	NCBI36
NG_032855.1:g.737918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510157.2:n.802G>C
ENST00000515096.6:n.4856G>C
ENST00000651695.2:c.8201G>C	ENSP00000498254.2:p.Cys2734Ser
ENST00000697127.1:c.1859G>C	ENSP00000513124.1:p.Cys620Ser
ENST00000697128.1:c.2535G>C
ENST00000697130.1:n.583G>C
ENST00000357115.9:c.8219G>C	ENSP00000349629.3:p.Cys2740Ser
ENST00000648626.1:n.2651G>C
ENST00000648823.1:c.1916G>C
ENST00000648878.1:c.1679G>C	ENSP00000497002.1:p.Cys560Ser
ENST00000651035.1:c.*2547G>C	ENSP00000498673.1:n.*2547G>C
ENST00000651695.1:c.5915G>C	ENSP00000498254.1:p.Cys1972Ser
ENST00000651943.2:c.8186G>C MANE Select	ENSP00000498582.2:p.Cys2729Ser
ENST00000357115.7:c.8219G>C	ENSP00000349629.3:p.Cys2740Ser
ENST00000503716.5:n.2276G>C
ENST00000508606.1:c.256G>C
ENST00000509835.5:c.4144G>C
ENST00000510157.1:n.567G>C
ENST00000510413.5:c.8183G>C	ENSP00000421552.1:p.Cys2728Ser
ENST00000515096.5:n.1478G>C
NM_001199282.2:c.8183G>C	NP_001186211.2:p.Cys2728Ser
NM_006726.4:c.8219G>C	NP_006717.2:p.Cys2740Ser
XM_005263372.2:c.8234G>C	XP_005263429.1:p.Cys2745Ser
XM_005263373.1:c.8234G>C	XP_005263430.1:p.Cys2745Ser
XM_005263374.2:c.8201G>C	XP_005263431.1:p.Cys2734Ser
XM_005263375.2:c.8186G>C	XP_005263432.1:p.Cys2729Ser
XM_011532434.1:c.8219G>C	XP_011530736.1:p.Cys2740Ser
NM_001364905.1:c.8186G>C MANE Select	NP_001351834.1:p.Cys2729Ser
XM_005263372.3:c.8234G>C	XP_005263429.1:p.Cys2745Ser
XM_005263373.3:c.8234G>C	XP_005263430.1:p.Cys2745Ser
XM_005263374.3:c.8201G>C	XP_005263431.1:p.Cys2734Ser
XM_011532434.2:c.8219G>C	XP_011530736.1:p.Cys2740Ser
XM_017008872.2:c.8201G>C	XP_016864361.1:p.Cys2734Ser
XM_017008873.2:c.1904G>C	XP_016864362.1:p.Cys635Ser
XM_017008874.1:c.1898G>C	XP_016864363.1:p.Cys633Ser
NM_001367550.1:c.8201G>C	NP_001354479.1:p.Cys2734Ser