Canonical Allele Identifier: CA410683349

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1967986
• ClinVar RCV Id: RCV002727169
• gnomAD v4: 22-19765018-C-T
• COSMIC: COSM5471426 ; COSM5471427 ; COSM5471428
• MyVariant Identifiers: chr22:g.19752541C>T (hg19) ; chr22:g.19765018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765018C>T , CM000684.2:g.19765018C>T	GRCh38
NC_000022.10:g.19752541C>T , CM000684.1:g.19752541C>T	GRCh37
NC_000022.9:g.18132541C>T	NCBI36
NG_009229.1:g.13316C>T , LRG_226:g.13316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.298C>T	ENSP00000514909.1:p.Arg100Cys
ENST00000649276.2:c.772C>T MANE Select	ENSP00000497003.1:p.Arg258Cys
ENST00000329705.11:c.745C>T	ENSP00000331176.7:p.Arg249Cys
ENST00000332710.8:c.745C>T	ENSP00000331791.4:p.Arg249Cys
ENST00000359500.7:c.745C>T	ENSP00000352483.3:p.Arg249Cys
ENST00000621939.1:c.745C>T	ENSP00000477982.1:p.Arg249Cys
NM_005992.1:c.745C>T	NP_005983.1:p.Arg249Cys
NM_080646.1:c.745C>T	NP_542377.1:p.Arg249Cys
NM_080647.1:c.745C>T , LRG_226t1:c.745C>T	NP_542378.1:p.Arg249Cys
XM_006724312.1:c.745C>T	XP_006724375.1:p.Arg249Cys
XM_011530351.1:c.772C>T	XP_011528653.1:p.Arg258Cys
XM_006724312.2:c.745C>T	XP_006724375.1:p.Arg249Cys
XM_017028925.1:c.895C>T	XP_016884414.1:p.Arg299Cys
XM_017028926.1:c.745C>T	XP_016884415.1:p.Arg249Cys
XM_017028927.1:c.46C>T	XP_016884416.1:p.Arg16Cys
XM_017028928.1:c.895C>T	XP_016884417.1:p.Arg299Cys
NM_001379200.1:c.772C>T MANE Select	NP_001366129.1:p.Arg258Cys
NM_080646.2:c.745C>T	NP_542377.1:p.Arg249Cys