Canonical Allele Identifier: CA2396032553

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766786T= , CM000684.2:g.19766786T=	GRCh38
NC_000022.10:g.19754309T= , CM000684.1:g.19754309T=	GRCh37
NC_000022.9:g.18134309T=	NCBI36
NG_009229.1:g.15084T= , LRG_226:g.15084T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1434T= MANE Select	ENSP00000497003.1:p.Ala478=
ENST00000329705.11:c.1009+784T=	ENSP00000331176.7:n.1009+784T=
ENST00000332710.8:c.1407T=	ENSP00000331791.4:p.Ala469=
ENST00000359500.7:c.1009+784T=	ENSP00000352483.3:n.1009+784T=
ENST00000621939.1:c.1009+784T=	ENSP00000477982.1:n.1009+784T=
NM_005992.1:c.1009+784T=	NP_005983.1:n.1009+784T=
NM_080646.1:c.1009+784T=	NP_542377.1:n.1009+784T=
NM_080647.1:c.1407T= , LRG_226t1:c.1407T=	NP_542378.1:p.Ala469=
XM_006724312.1:c.1407T=	XP_006724375.1:p.Ala469=
XM_011530351.1:c.1434T=	XP_011528653.1:p.Ala478=
XM_006724312.2:c.1407T=	XP_006724375.1:p.Ala469=
XM_017028925.1:c.1557T=	XP_016884414.1:p.Ala519=
XM_017028926.1:c.1407T=	XP_016884415.1:p.Ala469=
XM_017028927.1:c.762T=	XP_016884416.1:p.Ala254=
XM_017028928.1:c.1159+784T=	XP_016884417.1:n.1159+784T=
NM_001379200.1:c.1434T= MANE Select	NP_001366129.1:p.Ala478=
NM_080646.2:c.1009+784T=	NP_542377.1:n.1009+784T=