Canonical Allele Identifier: CA2396031440
Gene: TBX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19765026T= , CM000684.2:g.19765026T= GRCh38
NC_000022.10:g.19752549T= , CM000684.1:g.19752549T= GRCh37
NC_000022.9:g.18132549T= NCBI36
NG_009229.1:g.13324T= , LRG_226:g.13324T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700274.1:c.306T= ENSP00000514909.1:p.Asp102=
ENST00000649276.2:c.780T= MANE Select ENSP00000497003.1:p.Asp260=
ENST00000329705.11:c.753T= ENSP00000331176.7:p.Asp251=
ENST00000332710.8:c.753T= ENSP00000331791.4:p.Asp251=
ENST00000359500.7:c.753T= ENSP00000352483.3:p.Asp251=
ENST00000621939.1:c.753T= ENSP00000477982.1:p.Asp251=
NM_005992.1:c.753T= NP_005983.1:p.Asp251=
NM_080646.1:c.753T= NP_542377.1:p.Asp251=
NM_080647.1:c.753T= , LRG_226t1:c.753T= NP_542378.1:p.Asp251=
XM_006724312.1:c.753T= XP_006724375.1:p.Asp251=
XM_011530351.1:c.780T= XP_011528653.1:p.Asp260=
XM_006724312.2:c.753T= XP_006724375.1:p.Asp251=
XM_017028925.1:c.903T= XP_016884414.1:p.Asp301=
XM_017028926.1:c.753T= XP_016884415.1:p.Asp251=
XM_017028927.1:c.54T= XP_016884416.1:p.Asp18=
XM_017028928.1:c.903T= XP_016884417.1:p.Asp301=
NM_001379200.1:c.780T= MANE Select NP_001366129.1:p.Asp260=
NM_080646.2:c.753T= NP_542377.1:p.Asp251=