Canonical Allele Identifier: CA410683490

Gene: TBX1

Linked Data

• dbSNP Id: rs1936787038
• gnomAD v4: 22-19765079-G-A
• MyVariant Identifiers: chr22:g.19752602G>A (hg19) ; chr22:g.19765079G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765079G>A , CM000684.2:g.19765079G>A	GRCh38
NC_000022.10:g.19752602G>A , CM000684.1:g.19752602G>A	GRCh37
NC_000022.9:g.18132602G>A	NCBI36
NG_009229.1:g.13377G>A , LRG_226:g.13377G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700274.1:c.359G>A	ENSP00000514909.1:p.Arg120Gln
ENST00000649276.2:c.833G>A MANE Select	ENSP00000497003.1:p.Arg278Gln
ENST00000329705.11:c.806G>A	ENSP00000331176.7:p.Arg269Gln
ENST00000332710.8:c.806G>A	ENSP00000331791.4:p.Arg269Gln
ENST00000359500.7:c.806G>A	ENSP00000352483.3:p.Arg269Gln
ENST00000484336.1:n.1G>A
ENST00000621939.1:c.806G>A	ENSP00000477982.1:p.Arg269Gln
NM_005992.1:c.806G>A	NP_005983.1:p.Arg269Gln
NM_080646.1:c.806G>A	NP_542377.1:p.Arg269Gln
NM_080647.1:c.806G>A , LRG_226t1:c.806G>A	NP_542378.1:p.Arg269Gln
XM_006724312.1:c.806G>A	XP_006724375.1:p.Arg269Gln
XM_011530351.1:c.833G>A	XP_011528653.1:p.Arg278Gln
XM_006724312.2:c.806G>A	XP_006724375.1:p.Arg269Gln
XM_017028925.1:c.956G>A	XP_016884414.1:p.Arg319Gln
XM_017028926.1:c.806G>A	XP_016884415.1:p.Arg269Gln
XM_017028927.1:c.107G>A	XP_016884416.1:p.Arg36Gln
XM_017028928.1:c.956G>A	XP_016884417.1:p.Arg319Gln
NM_001379200.1:c.833G>A MANE Select	NP_001366129.1:p.Arg278Gln
NM_080646.2:c.806G>A	NP_542377.1:p.Arg269Gln