Canonical Allele Identifier: CA513687259

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2447899
• ClinVar RCV Id: RCV003176685
• dbSNP Id: rs1254516864
• gnomAD v2: 22-19754066-G-T
• gnomAD v4: 22-19766543-G-T
• MyVariant Identifiers: chr22:g.19754066G>T (hg19) ; chr22:g.19766543G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766543G>T , CM000684.2:g.19766543G>T	GRCh38
NC_000022.10:g.19754066G>T , CM000684.1:g.19754066G>T	GRCh37
NC_000022.9:g.18134066G>T	NCBI36
NG_009229.1:g.14841G>T , LRG_226:g.14841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1191G>T MANE Select	ENSP00000497003.1:p.Ala397=
ENST00000329705.11:c.1009+541G>T	ENSP00000331176.7:n.1009+541G>T
ENST00000332710.8:c.1164G>T	ENSP00000331791.4:p.Ala388=
ENST00000359500.7:c.1009+541G>T	ENSP00000352483.3:n.1009+541G>T
ENST00000621939.1:c.1009+541G>T	ENSP00000477982.1:n.1009+541G>T
NM_005992.1:c.1009+541G>T	NP_005983.1:n.1009+541G>T
NM_080646.1:c.1009+541G>T	NP_542377.1:n.1009+541G>T
NM_080647.1:c.1164G>T , LRG_226t1:c.1164G>T	NP_542378.1:p.Ala388=
XM_006724312.1:c.1164G>T	XP_006724375.1:p.Ala388=
XM_011530351.1:c.1191G>T	XP_011528653.1:p.Ala397=
XM_006724312.2:c.1164G>T	XP_006724375.1:p.Ala388=
XM_017028925.1:c.1314G>T	XP_016884414.1:p.Ala438=
XM_017028926.1:c.1164G>T	XP_016884415.1:p.Ala388=
XM_017028927.1:c.519G>T	XP_016884416.1:p.Ala173=
XM_017028928.1:c.1159+541G>T	XP_016884417.1:n.1159+541G>T
NM_001379200.1:c.1191G>T MANE Select	NP_001366129.1:p.Ala397=
NM_080646.2:c.1009+541G>T	NP_542377.1:n.1009+541G>T