Canonical Allele Identifier: CA214502

Gene: LRBA MAB21L2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150583174G>A , CM000666.2:g.150583174G>A	GRCh38
NC_000004.11:g.151504326G>A , CM000666.1:g.151504326G>A	GRCh37
NC_000004.10:g.151723776G>A	NCBI36
NG_032855.1:g.437324C>T
NG_042314.1:g.6250G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.6330+4874C>T (LRBA) MANE Select	NP_001351834.1:n.6330+4874C>T
NM_006439.5:c.145G>A (MAB21L2) MANE Select	NP_006430.1:p.Glu49Lys
ENST00000317605.6:c.145G>A (MAB21L2) MANE Select	ENSP00000324701.4:p.Glu49Lys
ENST00000651943.2:c.6330+4874C>T (LRBA) MANE Select	ENSP00000498582.2:n.6330+4874C>T
NM_001199282.2:c.6330+4874C>T (LRBA)	NP_001186211.2:n.6330+4874C>T
NM_001367550.1:c.6330+4874C>T (LRBA)	NP_001354479.1:n.6330+4874C>T
NM_006439.4:c.145G>A (MAB21L2)	NP_006430.1:p.Glu49Lys
NM_006726.4:c.6363+4874C>T (LRBA)	NP_006717.2:n.6363+4874C>T
ENST00000317605.5:c.145G>A (MAB21L2)	ENSP00000324701.4:p.Glu49Lys
ENST00000357115.7:c.6363+4874C>T (LRBA)	ENSP00000349629.3:n.6363+4874C>T
ENST00000357115.9:c.6363+4874C>T (LRBA)	ENSP00000349629.3:n.6363+4874C>T
ENST00000507224.5:c.6330+4874C>T (LRBA)	ENSP00000422180.1:n.6330+4874C>T
ENST00000509835.5:c.2288+4874C>T (LRBA)
ENST00000510413.5:c.6330+4874C>T (LRBA)	ENSP00000421552.1:n.6330+4874C>T
ENST00000513021.1:n.489+4874C>T (LRBA)
ENST00000648626.1:n.823C>T (LRBA)
ENST00000651035.1:c.*691+4874C>T (LRBA)	ENSP00000498673.1:n.*691+4874C>T
ENST00000651695.1:c.4044+4874C>T (LRBA)	ENSP00000498254.1:n.4044+4874C>T
ENST00000651695.2:c.6330+4874C>T (LRBA)	ENSP00000498254.2:n.6330+4874C>T
ENST00000697128.1:c.682+4874C>T (LRBA)
XM_005263372.2:c.6363+4874C>T (LRBA)	XP_005263429.1:n.6363+4874C>T
XM_005263372.3:c.6363+4874C>T (LRBA)	XP_005263429.1:n.6363+4874C>T
XM_005263373.1:c.6363+4874C>T (LRBA)	XP_005263430.1:n.6363+4874C>T
XM_005263373.3:c.6363+4874C>T (LRBA)	XP_005263430.1:n.6363+4874C>T
XM_005263374.2:c.6330+4874C>T (LRBA)	XP_005263431.1:n.6330+4874C>T
XM_005263374.3:c.6330+4874C>T (LRBA)	XP_005263431.1:n.6330+4874C>T
XM_005263375.2:c.6330+4874C>T (LRBA)	XP_005263432.1:n.6330+4874C>T
XM_011532434.1:c.6363+4874C>T (LRBA)	XP_011530736.1:n.6363+4874C>T
XM_011532434.2:c.6363+4874C>T (LRBA)	XP_011530736.1:n.6363+4874C>T
XM_017008872.2:c.6330+4874C>T (LRBA)	XP_016864361.1:n.6330+4874C>T