Canonical Allele Identifier: CA410684810

Gene: TBX1

Linked Data

• ClinVar Variation Id: 658243
• ClinVar RCV Id: RCV000815029 ; RCV003159166
• dbSNP Id: rs1601294456
• gnomAD v4: 22-19766632-A-T
• MyVariant Identifiers: chr22:g.19754155A>T (hg19) ; chr22:g.19766632A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766632A>T , CM000684.2:g.19766632A>T	GRCh38
NC_000022.10:g.19754155A>T , CM000684.1:g.19754155A>T	GRCh37
NC_000022.9:g.18134155A>T	NCBI36
NG_009229.1:g.14930A>T , LRG_226:g.14930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1280A>T MANE Select	ENSP00000497003.1:p.Tyr427Phe
ENST00000329705.11:c.1009+630A>T	ENSP00000331176.7:n.1009+630A>T
ENST00000332710.8:c.1253A>T	ENSP00000331791.4:p.Tyr418Phe
ENST00000359500.7:c.1009+630A>T	ENSP00000352483.3:n.1009+630A>T
ENST00000621939.1:c.1009+630A>T	ENSP00000477982.1:n.1009+630A>T
NM_005992.1:c.1009+630A>T	NP_005983.1:n.1009+630A>T
NM_080646.1:c.1009+630A>T	NP_542377.1:n.1009+630A>T
NM_080647.1:c.1253A>T , LRG_226t1:c.1253A>T	NP_542378.1:p.Tyr418Phe
XM_006724312.1:c.1253A>T	XP_006724375.1:p.Tyr418Phe
XM_011530351.1:c.1280A>T	XP_011528653.1:p.Tyr427Phe
XM_006724312.2:c.1253A>T	XP_006724375.1:p.Tyr418Phe
XM_017028925.1:c.1403A>T	XP_016884414.1:p.Tyr468Phe
XM_017028926.1:c.1253A>T	XP_016884415.1:p.Tyr418Phe
XM_017028927.1:c.608A>T	XP_016884416.1:p.Tyr203Phe
XM_017028928.1:c.1159+630A>T	XP_016884417.1:n.1159+630A>T
NM_001379200.1:c.1280A>T MANE Select	NP_001366129.1:p.Tyr427Phe
NM_080646.2:c.1009+630A>T	NP_542377.1:n.1009+630A>T