Canonical Allele Identifier: CA513361376

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1950730
• ClinVar RCV Id: RCV002681446
• dbSNP Id: rs1936782985
• gnomAD v4: 22-19764978-C-T
• MyVariant Identifiers: chr22:g.19752501C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764978C>T , CM000684.2:g.19764978C>T	GRCh38
NC_000022.10:g.19752501C>T , CM000684.1:g.19752501C>T	GRCh37
NC_000022.9:g.18132501C>T	NCBI36
NG_009229.1:g.13276C>T , LRG_226:g.13276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.258C>T	ENSP00000514909.1:p.His86=
ENST00000649276.2:c.732C>T MANE Select	ENSP00000497003.1:p.His244=
ENST00000680333.1:c.705C>T	ENSP00000505472.1:p.His235=
ENST00000329705.11:c.705C>T	ENSP00000331176.7:p.His235=
ENST00000332710.8:c.705C>T	ENSP00000331791.4:p.His235=
ENST00000359500.7:c.705C>T	ENSP00000352483.3:p.His235=
ENST00000621939.1:c.705C>T	ENSP00000477982.1:p.His235=
NM_005992.1:c.705C>T	NP_005983.1:p.His235=
NM_080646.1:c.705C>T	NP_542377.1:p.His235=
NM_080647.1:c.705C>T , LRG_226t1:c.705C>T	NP_542378.1:p.His235=
XM_006724312.1:c.705C>T	XP_006724375.1:p.His235=
XM_011530351.1:c.732C>T	XP_011528653.1:p.His244=
XM_006724312.2:c.705C>T	XP_006724375.1:p.His235=
XM_017028925.1:c.855C>T	XP_016884414.1:p.His285=
XM_017028926.1:c.705C>T	XP_016884415.1:p.His235=
XM_017028927.1:c.6C>T	XP_016884416.1:p.His2=
XM_017028928.1:c.855C>T	XP_016884417.1:p.His285=
NM_001379200.1:c.732C>T MANE Select	NP_001366129.1:p.His244=
NM_080646.2:c.705C>T	NP_542377.1:p.His235=