Canonical Allele Identifier: CA410682836

Gene: TBX1

Linked Data

• dbSNP Id: rs1316409370
• gnomAD v3: 22-19764228-C-G
• gnomAD v4: 22-19764228-C-G
• MyVariant Identifiers: chr22:g.19751751C>G (hg19) ; chr22:g.19764228C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764228C>G , CM000684.2:g.19764228C>G	GRCh38
NC_000022.10:g.19751751C>G , CM000684.1:g.19751751C>G	GRCh37
NC_000022.9:g.18131751C>G	NCBI36
NG_009229.1:g.12526C>G , LRG_226:g.12526C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.139C>G	ENSP00000514909.1:p.His47Asp
ENST00000649276.2:c.613C>G MANE Select	ENSP00000497003.1:p.His205Asp
ENST00000680333.1:c.586C>G	ENSP00000505472.1:p.His196Asp
ENST00000329705.11:c.586C>G	ENSP00000331176.7:p.His196Asp
ENST00000332710.8:c.586C>G	ENSP00000331791.4:p.His196Asp
ENST00000359500.7:c.586C>G	ENSP00000352483.3:p.His196Asp
ENST00000621939.1:c.586C>G	ENSP00000477982.1:p.His196Asp
NM_005992.1:c.586C>G	NP_005983.1:p.His196Asp
NM_080646.1:c.586C>G	NP_542377.1:p.His196Asp
NM_080647.1:c.586C>G , LRG_226t1:c.586C>G	NP_542378.1:p.His196Asp
XM_006724312.1:c.586C>G	XP_006724375.1:p.His196Asp
XM_011530351.1:c.613C>G	XP_011528653.1:p.His205Asp
XM_006724312.2:c.586C>G	XP_006724375.1:p.His196Asp
XM_017028925.1:c.736C>G	XP_016884414.1:p.His246Asp
XM_017028926.1:c.586C>G	XP_016884415.1:p.His196Asp
XM_017028928.1:c.736C>G	XP_016884417.1:p.His246Asp
NM_001379200.1:c.613C>G MANE Select	NP_001366129.1:p.His205Asp
NM_080646.2:c.586C>G	NP_542377.1:p.His196Asp