Canonical Allele Identifier: CA2396032542

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766775G= , CM000684.2:g.19766775G=	GRCh38
NC_000022.10:g.19754298G= , CM000684.1:g.19754298G=	GRCh37
NC_000022.9:g.18134298G=	NCBI36
NG_009229.1:g.15073G= , LRG_226:g.15073G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1423G= MANE Select	ENSP00000497003.1:p.Ala475=
ENST00000329705.11:c.1009+773G=	ENSP00000331176.7:n.1009+773G=
ENST00000332710.8:c.1396G=	ENSP00000331791.4:p.Ala466=
ENST00000359500.7:c.1009+773G=	ENSP00000352483.3:n.1009+773G=
ENST00000621939.1:c.1009+773G=	ENSP00000477982.1:n.1009+773G=
NM_005992.1:c.1009+773G=	NP_005983.1:n.1009+773G=
NM_080646.1:c.1009+773G=	NP_542377.1:n.1009+773G=
NM_080647.1:c.1396G= , LRG_226t1:c.1396G=	NP_542378.1:p.Ala466=
XM_006724312.1:c.1396G=	XP_006724375.1:p.Ala466=
XM_011530351.1:c.1423G=	XP_011528653.1:p.Ala475=
XM_006724312.2:c.1396G=	XP_006724375.1:p.Ala466=
XM_017028925.1:c.1546G=	XP_016884414.1:p.Ala516=
XM_017028926.1:c.1396G=	XP_016884415.1:p.Ala466=
XM_017028927.1:c.751G=	XP_016884416.1:p.Ala251=
XM_017028928.1:c.1159+773G=	XP_016884417.1:n.1159+773G=
NM_001379200.1:c.1423G= MANE Select	NP_001366129.1:p.Ala475=
NM_080646.2:c.1009+773G=	NP_542377.1:n.1009+773G=