Canonical Allele Identifier: CA10102395

Gene: TBX1

Linked Data

• ClinVar Variation Id: 263555
• ClinVar RCV Id: RCV000249903 ; RCV000536853 ; RCV000993260 ; RCV001699418 ; RCV003977711
• dbSNP Id: rs72646953
• ExAC: 22:19748690 G / A
• gnomAD v2: 22-19748690-G-A
• gnomAD v3: 22-19761167-G-A
• gnomAD v4: 22-19761167-G-A
• MyVariant Identifiers: chr22:g.19748690G>A (hg19) ; chr22:g.19761167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19761167G>A , CM000684.2:g.19761167G>A	GRCh38
NC_000022.10:g.19748690G>A , CM000684.1:g.19748690G>A	GRCh37
NC_000022.9:g.18128690G>A	NCBI36
NG_009229.1:g.9465G>A , LRG_226:g.9465G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700274.1:c.-38+1490G>A	ENSP00000514909.1:n.-38+1490G>A
ENST00000649276.2:c.324G>A MANE Select	ENSP00000497003.1:p.Ala108=
ENST00000680333.1:c.297G>A	ENSP00000505472.1:p.Ala99=
ENST00000329705.11:c.297G>A	ENSP00000331176.7:p.Ala99=
ENST00000332710.8:c.297G>A	ENSP00000331791.4:p.Ala99=
ENST00000359500.7:c.297G>A	ENSP00000352483.3:p.Ala99=
ENST00000621939.1:c.297G>A	ENSP00000477982.1:p.Ala99=
NM_005992.1:c.297G>A	NP_005983.1:p.Ala99=
NM_080646.1:c.297G>A	NP_542377.1:p.Ala99=
NM_080647.1:c.297G>A , LRG_226t1:c.297G>A	NP_542378.1:p.Ala99=
XM_006724312.1:c.297G>A	XP_006724375.1:p.Ala99=
XM_011530351.1:c.324G>A	XP_011528653.1:p.Ala108=
XM_006724312.2:c.297G>A	XP_006724375.1:p.Ala99=
XM_017028925.1:c.447G>A	XP_016884414.1:p.Ala149=
XM_017028926.1:c.297G>A	XP_016884415.1:p.Ala99=
XM_017028928.1:c.447G>A	XP_016884417.1:p.Ala149=
NM_001379200.1:c.324G>A MANE Select	NP_001366129.1:p.Ala108=
NM_080646.2:c.297G>A	NP_542377.1:p.Ala99=