Canonical Allele Identifier: CA513361426

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1148492
• ClinVar RCV Id: RCV001488370 ; RCV002421121
• dbSNP Id: rs1182771166
• gnomAD v2: 22-19752600-A-T
• gnomAD v3: 22-19765077-A-T
• gnomAD v4: 22-19765077-A-T
• MyVariant Identifiers: chr22:g.19752600A>T (hg19) ; chr22:g.19765077A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765077A>T , CM000684.2:g.19765077A>T	GRCh38
NC_000022.10:g.19752600A>T , CM000684.1:g.19752600A>T	GRCh37
NC_000022.9:g.18132600A>T	NCBI36
NG_009229.1:g.13375A>T , LRG_226:g.13375A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.357A>T	ENSP00000514909.1:p.Thr119=
ENST00000649276.2:c.831A>T MANE Select	ENSP00000497003.1:p.Thr277=
ENST00000329705.11:c.804A>T	ENSP00000331176.7:p.Thr268=
ENST00000332710.8:c.804A>T	ENSP00000331791.4:p.Thr268=
ENST00000359500.7:c.804A>T	ENSP00000352483.3:p.Thr268=
ENST00000621939.1:c.804A>T	ENSP00000477982.1:p.Thr268=
NM_005992.1:c.804A>T	NP_005983.1:p.Thr268=
NM_080646.1:c.804A>T	NP_542377.1:p.Thr268=
NM_080647.1:c.804A>T , LRG_226t1:c.804A>T	NP_542378.1:p.Thr268=
XM_006724312.1:c.804A>T	XP_006724375.1:p.Thr268=
XM_011530351.1:c.831A>T	XP_011528653.1:p.Thr277=
XM_006724312.2:c.804A>T	XP_006724375.1:p.Thr268=
XM_017028925.1:c.954A>T	XP_016884414.1:p.Thr318=
XM_017028926.1:c.804A>T	XP_016884415.1:p.Thr268=
XM_017028927.1:c.105A>T	XP_016884416.1:p.Thr35=
XM_017028928.1:c.954A>T	XP_016884417.1:p.Thr318=
NM_001379200.1:c.831A>T MANE Select	NP_001366129.1:p.Thr277=
NM_080646.2:c.804A>T	NP_542377.1:p.Thr268=