Canonical Allele Identifier: CA2396032366

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766543G= , CM000684.2:g.19766543G=	GRCh38
NC_000022.10:g.19754066G= , CM000684.1:g.19754066G=	GRCh37
NC_000022.9:g.18134066G=	NCBI36
NG_009229.1:g.14841G= , LRG_226:g.14841G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1191G= MANE Select	ENSP00000497003.1:p.Ala397=
ENST00000329705.11:c.1009+541G=	ENSP00000331176.7:n.1009+541G=
ENST00000332710.8:c.1164G=	ENSP00000331791.4:p.Ala388=
ENST00000359500.7:c.1009+541G=	ENSP00000352483.3:n.1009+541G=
ENST00000621939.1:c.1009+541G=	ENSP00000477982.1:n.1009+541G=
NM_005992.1:c.1009+541G=	NP_005983.1:n.1009+541G=
NM_080646.1:c.1009+541G=	NP_542377.1:n.1009+541G=
NM_080647.1:c.1164G= , LRG_226t1:c.1164G=	NP_542378.1:p.Ala388=
XM_006724312.1:c.1164G=	XP_006724375.1:p.Ala388=
XM_011530351.1:c.1191G=	XP_011528653.1:p.Ala397=
XM_006724312.2:c.1164G=	XP_006724375.1:p.Ala388=
XM_017028925.1:c.1314G=	XP_016884414.1:p.Ala438=
XM_017028926.1:c.1164G=	XP_016884415.1:p.Ala388=
XM_017028927.1:c.519G=	XP_016884416.1:p.Ala173=
XM_017028928.1:c.1159+541G=	XP_016884417.1:n.1159+541G=
NM_001379200.1:c.1191G= MANE Select	NP_001366129.1:p.Ala397=
NM_080646.2:c.1009+541G=	NP_542377.1:n.1009+541G=