Canonical Allele Identifier: CA10102637

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765907G>A , CM000684.2:g.19765907G>A	GRCh38
NC_000022.10:g.19753430G>A , CM000684.1:g.19753430G>A	GRCh37
NC_000022.9:g.18133430G>A	NCBI36
NG_009229.1:g.14205G>A , LRG_226:g.14205G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379200.1:c.941G>A MANE Select	NP_001366129.1:p.Arg314Gln
ENST00000649276.2:c.941G>A MANE Select	ENSP00000497003.1:p.Arg314Gln
NM_005992.1:c.914G>A	NP_005983.1:p.Arg305Gln
NM_080646.1:c.914G>A	NP_542377.1:p.Arg305Gln
NM_080646.2:c.914G>A	NP_542377.1:p.Arg305Gln
NM_080647.1:c.914G>A , LRG_226t1:c.914G>A	NP_542378.1:p.Arg305Gln
ENST00000329705.11:c.914G>A	ENSP00000331176.7:p.Arg305Gln
ENST00000332710.8:c.914G>A	ENSP00000331791.4:p.Arg305Gln
ENST00000359500.7:c.914G>A	ENSP00000352483.3:p.Arg305Gln
ENST00000484336.1:n.109G>A
ENST00000621939.1:c.914G>A	ENSP00000477982.1:p.Arg305Gln
ENST00000700274.1:c.467G>A	ENSP00000514909.1:p.Arg156Gln
XM_006724312.1:c.914G>A	XP_006724375.1:p.Arg305Gln
XM_006724312.2:c.914G>A	XP_006724375.1:p.Arg305Gln
XM_011530351.1:c.941G>A	XP_011528653.1:p.Arg314Gln
XM_017028925.1:c.1064G>A	XP_016884414.1:p.Arg355Gln
XM_017028926.1:c.914G>A	XP_016884415.1:p.Arg305Gln
XM_017028927.1:c.269G>A	XP_016884416.1:p.Arg90Gln
XM_017028928.1:c.1064G>A	XP_016884417.1:p.Arg355Gln