Canonical Allele Identifier: CA10102730
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 518488
dbSNP Id: rs367711718

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766732T>C , CM000684.2:g.19766732T>C GRCh38
NC_000022.10:g.19754255T>C , CM000684.1:g.19754255T>C GRCh37
NC_000022.9:g.18134255T>C NCBI36
NG_009229.1:g.15030T>C , LRG_226:g.15030T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649276.2:c.1380T>C MANE Select ENSP00000497003.1:p.His460=
ENST00000329705.11:c.1009+730T>C ENSP00000331176.7:p.=
ENST00000332710.8:c.1353T>C ENSP00000331791.4:p.His451=
ENST00000359500.7:c.1009+730T>C ENSP00000352483.3:p.=
ENST00000621939.1:c.1009+730T>C ENSP00000477982.1:p.=
NM_005992.1:c.1009+730T>C NP_005983.1:p.=
NM_080646.1:c.1009+730T>C NP_542377.1:p.=
NM_080647.1:c.1353T>C , LRG_226t1:c.1353T>C NP_542378.1:p.His451=
XM_006724312.1:c.1353T>C XP_006724375.1:p.His451=
XM_011530351.1:c.1380T>C XP_011528653.1:p.His460=
XM_006724312.2:c.1353T>C XP_006724375.1:p.His451=
XM_017028925.1:c.1503T>C XP_016884414.1:p.His501=
XM_017028926.1:c.1353T>C XP_016884415.1:p.His451=
XM_017028927.1:c.708T>C XP_016884416.1:p.His236=
XM_017028928.1:c.1159+730T>C XP_016884417.1:p.=
NM_001379200.1:c.1380T>C MANE Select NP_001366129.1:p.His460=
NM_080646.2:c.1009+730T>C NP_542377.1:p.=