Canonical Allele Identifier: CA10102790

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2573634
• ClinVar RCV Id: RCV003317970
• dbSNP Id: rs745479292
• ExAC: 22:19754388 T / A
• gnomAD v2: 22-19754388-T-A
• gnomAD v4: 22-19766865-T-A
• MyVariant Identifiers: chr22:g.19754388T>A (hg19) ; chr22:g.19766865T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766865T>A , CM000684.2:g.19766865T>A	GRCh38
NC_000022.10:g.19754388T>A , CM000684.1:g.19754388T>A	GRCh37
NC_000022.9:g.18134388T>A	NCBI36
NG_009229.1:g.15163T>A , LRG_226:g.15163T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1513T>A MANE Select	ENSP00000497003.1:p.Ter505Lys
ENST00000329705.11:c.1009+863T>A	ENSP00000331176.7:n.1009+863T>A
ENST00000332710.8:c.1486T>A	ENSP00000331791.4:p.Ter496Lys
ENST00000359500.7:c.1009+863T>A	ENSP00000352483.3:n.1009+863T>A
ENST00000621939.1:c.1009+863T>A	ENSP00000477982.1:n.1009+863T>A
NM_005992.1:c.1009+863T>A	NP_005983.1:n.1009+863T>A
NM_080646.1:c.1009+863T>A	NP_542377.1:n.1009+863T>A
NM_080647.1:c.1486T>A , LRG_226t1:c.1486T>A	NP_542378.1:p.Ter496Lys
XM_006724312.1:c.1486T>A	XP_006724375.1:p.Ter496Lys
XM_011530351.1:c.1513T>A	XP_011528653.1:p.Ter505Lys
XM_006724312.2:c.1486T>A	XP_006724375.1:p.Ter496Lys
XM_017028925.1:c.1636T>A	XP_016884414.1:p.Ter546Lys
XM_017028926.1:c.1486T>A	XP_016884415.1:p.Ter496Lys
XM_017028927.1:c.841T>A	XP_016884416.1:p.Ter281Lys
XM_017028928.1:c.1159+863T>A	XP_016884417.1:n.1159+863T>A
NM_001379200.1:c.1513T>A MANE Select	NP_001366129.1:p.Ter505Lys
NM_080646.2:c.1009+863T>A	NP_542377.1:n.1009+863T>A