Canonical Allele Identifier: CA513361392

Gene: TBX1

Linked Data

• dbSNP Id: rs1936783989
• gnomAD v4: 22-19765005-C-T
• MyVariant Identifiers: chr22:g.19752528C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765005C>T , CM000684.2:g.19765005C>T	GRCh38
NC_000022.10:g.19752528C>T , CM000684.1:g.19752528C>T	GRCh37
NC_000022.9:g.18132528C>T	NCBI36
NG_009229.1:g.13303C>T , LRG_226:g.13303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.285C>T	ENSP00000514909.1:p.Val95=
ENST00000649276.2:c.759C>T MANE Select	ENSP00000497003.1:p.Val253=
ENST00000329705.11:c.732C>T	ENSP00000331176.7:p.Val244=
ENST00000332710.8:c.732C>T	ENSP00000331791.4:p.Val244=
ENST00000359500.7:c.732C>T	ENSP00000352483.3:p.Val244=
ENST00000621939.1:c.732C>T	ENSP00000477982.1:p.Val244=
NM_005992.1:c.732C>T	NP_005983.1:p.Val244=
NM_080646.1:c.732C>T	NP_542377.1:p.Val244=
NM_080647.1:c.732C>T , LRG_226t1:c.732C>T	NP_542378.1:p.Val244=
XM_006724312.1:c.732C>T	XP_006724375.1:p.Val244=
XM_011530351.1:c.759C>T	XP_011528653.1:p.Val253=
XM_006724312.2:c.732C>T	XP_006724375.1:p.Val244=
XM_017028925.1:c.882C>T	XP_016884414.1:p.Val294=
XM_017028926.1:c.732C>T	XP_016884415.1:p.Val244=
XM_017028927.1:c.33C>T	XP_016884416.1:p.Val11=
XM_017028928.1:c.882C>T	XP_016884417.1:p.Val294=
NM_001379200.1:c.759C>T MANE Select	NP_001366129.1:p.Val253=
NM_080646.2:c.732C>T	NP_542377.1:p.Val244=