Canonical Allele Identifier: CA10102525

Gene: TBX1

Linked Data

• ClinVar Variation Id: 695434
• ClinVar RCV Id: RCV000861074 ; RCV001712798
• dbSNP Id: rs149453540
• ExAC: 22:19751843 C / T
• gnomAD v2: 22-19751843-C-T
• gnomAD v3: 22-19764320-C-T
• gnomAD v4: 22-19764320-C-T
• MyVariant Identifiers: chr22:g.19751843C>T (hg19) ; chr22:g.19764320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764320C>T , CM000684.2:g.19764320C>T	GRCh38
NC_000022.10:g.19751843C>T , CM000684.1:g.19751843C>T	GRCh37
NC_000022.9:g.18131843C>T	NCBI36
NG_009229.1:g.12618C>T , LRG_226:g.12618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.231C>T	ENSP00000514909.1:p.Asn77=
ENST00000649276.2:c.705C>T MANE Select	ENSP00000497003.1:p.Asn235=
ENST00000680333.1:c.678C>T	ENSP00000505472.1:p.Asn226=
ENST00000329705.11:c.678C>T	ENSP00000331176.7:p.Asn226=
ENST00000332710.8:c.678C>T	ENSP00000331791.4:p.Asn226=
ENST00000359500.7:c.678C>T	ENSP00000352483.3:p.Asn226=
ENST00000621939.1:c.678C>T	ENSP00000477982.1:p.Asn226=
NM_005992.1:c.678C>T	NP_005983.1:p.Asn226=
NM_080646.1:c.678C>T	NP_542377.1:p.Asn226=
NM_080647.1:c.678C>T , LRG_226t1:c.678C>T	NP_542378.1:p.Asn226=
XM_006724312.1:c.678C>T	XP_006724375.1:p.Asn226=
XM_011530351.1:c.705C>T	XP_011528653.1:p.Asn235=
XM_006724312.2:c.678C>T	XP_006724375.1:p.Asn226=
XM_017028925.1:c.828C>T	XP_016884414.1:p.Asn276=
XM_017028926.1:c.678C>T	XP_016884415.1:p.Asn226=
XM_017028928.1:c.828C>T	XP_016884417.1:p.Asn276=
NM_001379200.1:c.705C>T MANE Select	NP_001366129.1:p.Asn235=
NM_080646.2:c.678C>T	NP_542377.1:p.Asn226=