Canonical Allele Identifier: CA2396032463

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766684C= , CM000684.2:g.19766684C=	GRCh38
NC_000022.10:g.19754207C= , CM000684.1:g.19754207C=	GRCh37
NC_000022.9:g.18134207C=	NCBI36
NG_009229.1:g.14982C= , LRG_226:g.14982C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1332C= MANE Select	ENSP00000497003.1:p.Pro444=
ENST00000329705.11:c.1009+682C=	ENSP00000331176.7:n.1009+682C=
ENST00000332710.8:c.1305C=	ENSP00000331791.4:p.Pro435=
ENST00000359500.7:c.1009+682C=	ENSP00000352483.3:n.1009+682C=
ENST00000621939.1:c.1009+682C=	ENSP00000477982.1:n.1009+682C=
NM_005992.1:c.1009+682C=	NP_005983.1:n.1009+682C=
NM_080646.1:c.1009+682C=	NP_542377.1:n.1009+682C=
NM_080647.1:c.1305C= , LRG_226t1:c.1305C=	NP_542378.1:p.Pro435=
XM_006724312.1:c.1305C=	XP_006724375.1:p.Pro435=
XM_011530351.1:c.1332C=	XP_011528653.1:p.Pro444=
XM_006724312.2:c.1305C=	XP_006724375.1:p.Pro435=
XM_017028925.1:c.1455C=	XP_016884414.1:p.Pro485=
XM_017028926.1:c.1305C=	XP_016884415.1:p.Pro435=
XM_017028927.1:c.660C=	XP_016884416.1:p.Pro220=
XM_017028928.1:c.1159+682C=	XP_016884417.1:n.1159+682C=
NM_001379200.1:c.1332C= MANE Select	NP_001366129.1:p.Pro444=
NM_080646.2:c.1009+682C=	NP_542377.1:n.1009+682C=