Canonical Allele Identifier: CA410683467
Gene: TBX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19765067T>G , CM000684.2:g.19765067T>G GRCh38
NC_000022.10:g.19752590T>G , CM000684.1:g.19752590T>G GRCh37
NC_000022.9:g.18132590T>G NCBI36
NG_009229.1:g.13365T>G , LRG_226:g.13365T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700274.1:c.347T>G ENSP00000514909.1:p.Phe116Cys
ENST00000649276.2:c.821T>G MANE Select ENSP00000497003.1:p.Phe274Cys
ENST00000329705.11:c.794T>G ENSP00000331176.7:p.Phe265Cys
ENST00000332710.8:c.794T>G ENSP00000331791.4:p.Phe265Cys
ENST00000359500.7:c.794T>G ENSP00000352483.3:p.Phe265Cys
ENST00000621939.1:c.794T>G ENSP00000477982.1:p.Phe265Cys
NM_005992.1:c.794T>G NP_005983.1:p.Phe265Cys
NM_080646.1:c.794T>G NP_542377.1:p.Phe265Cys
NM_080647.1:c.794T>G , LRG_226t1:c.794T>G NP_542378.1:p.Phe265Cys
XM_006724312.1:c.794T>G XP_006724375.1:p.Phe265Cys
XM_011530351.1:c.821T>G XP_011528653.1:p.Phe274Cys
XM_006724312.2:c.794T>G XP_006724375.1:p.Phe265Cys
XM_017028925.1:c.944T>G XP_016884414.1:p.Phe315Cys
XM_017028926.1:c.794T>G XP_016884415.1:p.Phe265Cys
XM_017028927.1:c.95T>G XP_016884416.1:p.Phe32Cys
XM_017028928.1:c.944T>G XP_016884417.1:p.Phe315Cys
NM_001379200.1:c.821T>G MANE Select NP_001366129.1:p.Phe274Cys
NM_080646.2:c.794T>G NP_542377.1:p.Phe265Cys