Canonical Allele Identifier: CA2396031430

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764999C= , CM000684.2:g.19764999C=	GRCh38
NC_000022.10:g.19752522C= , CM000684.1:g.19752522C=	GRCh37
NC_000022.9:g.18132522C=	NCBI36
NG_009229.1:g.13297C= , LRG_226:g.13297C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.279C=	ENSP00000514909.1:p.His93=
ENST00000649276.2:c.753C= MANE Select	ENSP00000497003.1:p.His251=
ENST00000329705.11:c.726C=	ENSP00000331176.7:p.His242=
ENST00000332710.8:c.726C=	ENSP00000331791.4:p.His242=
ENST00000359500.7:c.726C=	ENSP00000352483.3:p.His242=
ENST00000621939.1:c.726C=	ENSP00000477982.1:p.His242=
NM_005992.1:c.726C=	NP_005983.1:p.His242=
NM_080646.1:c.726C=	NP_542377.1:p.His242=
NM_080647.1:c.726C= , LRG_226t1:c.726C=	NP_542378.1:p.His242=
XM_006724312.1:c.726C=	XP_006724375.1:p.His242=
XM_011530351.1:c.753C=	XP_011528653.1:p.His251=
XM_006724312.2:c.726C=	XP_006724375.1:p.His242=
XM_017028925.1:c.876C=	XP_016884414.1:p.His292=
XM_017028926.1:c.726C=	XP_016884415.1:p.His242=
XM_017028927.1:c.27C=	XP_016884416.1:p.His9=
XM_017028928.1:c.876C=	XP_016884417.1:p.His292=
NM_001379200.1:c.753C= MANE Select	NP_001366129.1:p.His251=
NM_080646.2:c.726C=	NP_542377.1:p.His242=