Canonical Allele Identifier: CA2396031429

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764996C= , CM000684.2:g.19764996C=	GRCh38
NC_000022.10:g.19752519C= , CM000684.1:g.19752519C=	GRCh37
NC_000022.9:g.18132519C=	NCBI36
NG_009229.1:g.13294C= , LRG_226:g.13294C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.276C=	ENSP00000514909.1:p.Phe92=
ENST00000649276.2:c.750C= MANE Select	ENSP00000497003.1:p.Phe250=
ENST00000329705.11:c.723C=	ENSP00000331176.7:p.Phe241=
ENST00000332710.8:c.723C=	ENSP00000331791.4:p.Phe241=
ENST00000359500.7:c.723C=	ENSP00000352483.3:p.Phe241=
ENST00000621939.1:c.723C=	ENSP00000477982.1:p.Phe241=
NM_005992.1:c.723C=	NP_005983.1:p.Phe241=
NM_080646.1:c.723C=	NP_542377.1:p.Phe241=
NM_080647.1:c.723C= , LRG_226t1:c.723C=	NP_542378.1:p.Phe241=
XM_006724312.1:c.723C=	XP_006724375.1:p.Phe241=
XM_011530351.1:c.750C=	XP_011528653.1:p.Phe250=
XM_006724312.2:c.723C=	XP_006724375.1:p.Phe241=
XM_017028925.1:c.873C=	XP_016884414.1:p.Phe291=
XM_017028926.1:c.723C=	XP_016884415.1:p.Phe241=
XM_017028927.1:c.24C=	XP_016884416.1:p.Phe8=
XM_017028928.1:c.873C=	XP_016884417.1:p.Phe291=
NM_001379200.1:c.750C= MANE Select	NP_001366129.1:p.Phe250=
NM_080646.2:c.723C=	NP_542377.1:p.Phe241=