Canonical Allele Identifier: CA10102513

Gene: TBX1

Linked Data

• ClinVar Variation Id: 518582
• ClinVar RCV Id: RCV000620346 ; RCV001476384
• dbSNP Id: rs141186024
• ExAC: 22:19751795 C / T
• gnomAD v2: 22-19751795-C-T
• gnomAD v3: 22-19764272-C-T
• gnomAD v4: 22-19764272-C-T
• MyVariant Identifiers: chr22:g.19751795C>T (hg19) ; chr22:g.19764272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764272C>T , CM000684.2:g.19764272C>T	GRCh38
NC_000022.10:g.19751795C>T , CM000684.1:g.19751795C>T	GRCh37
NC_000022.9:g.18131795C>T	NCBI36
NG_009229.1:g.12570C>T , LRG_226:g.12570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.183C>T	ENSP00000514909.1:p.Ile61=
ENST00000649276.2:c.657C>T MANE Select	ENSP00000497003.1:p.Ile219=
ENST00000680333.1:c.630C>T	ENSP00000505472.1:p.Ile210=
ENST00000329705.11:c.630C>T	ENSP00000331176.7:p.Ile210=
ENST00000332710.8:c.630C>T	ENSP00000331791.4:p.Ile210=
ENST00000359500.7:c.630C>T	ENSP00000352483.3:p.Ile210=
ENST00000621939.1:c.630C>T	ENSP00000477982.1:p.Ile210=
NM_005992.1:c.630C>T	NP_005983.1:p.Ile210=
NM_080646.1:c.630C>T	NP_542377.1:p.Ile210=
NM_080647.1:c.630C>T , LRG_226t1:c.630C>T	NP_542378.1:p.Ile210=
XM_006724312.1:c.630C>T	XP_006724375.1:p.Ile210=
XM_011530351.1:c.657C>T	XP_011528653.1:p.Ile219=
XM_006724312.2:c.630C>T	XP_006724375.1:p.Ile210=
XM_017028925.1:c.780C>T	XP_016884414.1:p.Ile260=
XM_017028926.1:c.630C>T	XP_016884415.1:p.Ile210=
XM_017028928.1:c.780C>T	XP_016884417.1:p.Ile260=
NM_001379200.1:c.657C>T MANE Select	NP_001366129.1:p.Ile219=
NM_080646.2:c.630C>T	NP_542377.1:p.Ile210=