Canonical Allele Identifier: CA10102563

Gene: TBX1

Linked Data

• ClinVar Variation Id: 934486
• ClinVar RCV Id: RCV001202887 ; RCV002069302 ; RCV001570784
• dbSNP Id: rs144848597
• ExAC: 22:19752592 G / A
• gnomAD v2: 22-19752592-G-A
• gnomAD v3: 22-19765069-G-A
• gnomAD v4: 22-19765069-G-A
• COSMIC: COSM1032134 ; COSM1032135 ; COSM1032136
• MyVariant Identifiers: chr22:g.19752592G>A (hg19) ; chr22:g.19765069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765069G>A , CM000684.2:g.19765069G>A	GRCh38
NC_000022.10:g.19752592G>A , CM000684.1:g.19752592G>A	GRCh37
NC_000022.9:g.18132592G>A	NCBI36
NG_009229.1:g.13367G>A , LRG_226:g.13367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.349G>A	ENSP00000514909.1:p.Glu117Lys
ENST00000649276.2:c.823G>A MANE Select	ENSP00000497003.1:p.Glu275Lys
ENST00000329705.11:c.796G>A	ENSP00000331176.7:p.Glu266Lys
ENST00000332710.8:c.796G>A	ENSP00000331791.4:p.Glu266Lys
ENST00000359500.7:c.796G>A	ENSP00000352483.3:p.Glu266Lys
ENST00000621939.1:c.796G>A	ENSP00000477982.1:p.Glu266Lys
NM_005992.1:c.796G>A	NP_005983.1:p.Glu266Lys
NM_080646.1:c.796G>A	NP_542377.1:p.Glu266Lys
NM_080647.1:c.796G>A , LRG_226t1:c.796G>A	NP_542378.1:p.Glu266Lys
XM_006724312.1:c.796G>A	XP_006724375.1:p.Glu266Lys
XM_011530351.1:c.823G>A	XP_011528653.1:p.Glu275Lys
XM_006724312.2:c.796G>A	XP_006724375.1:p.Glu266Lys
XM_017028925.1:c.946G>A	XP_016884414.1:p.Glu316Lys
XM_017028926.1:c.796G>A	XP_016884415.1:p.Glu266Lys
XM_017028927.1:c.97G>A	XP_016884416.1:p.Glu33Lys
XM_017028928.1:c.946G>A	XP_016884417.1:p.Glu316Lys
NM_001379200.1:c.823G>A MANE Select	NP_001366129.1:p.Glu275Lys
NM_080646.2:c.796G>A	NP_542377.1:p.Glu266Lys