Canonical Allele Identifier: CA410683498
Gene: TBX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19765082T>G , CM000684.2:g.19765082T>G GRCh38
NC_000022.10:g.19752605T>G , CM000684.1:g.19752605T>G GRCh37
NC_000022.9:g.18132605T>G NCBI36
NG_009229.1:g.13380T>G , LRG_226:g.13380T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700274.1:c.362T>G ENSP00000514909.1:p.Phe121Cys
ENST00000649276.2:c.836T>G MANE Select ENSP00000497003.1:p.Phe279Cys
ENST00000329705.11:c.809T>G ENSP00000331176.7:p.Phe270Cys
ENST00000332710.8:c.809T>G ENSP00000331791.4:p.Phe270Cys
ENST00000359500.7:c.809T>G ENSP00000352483.3:p.Phe270Cys
ENST00000484336.1:n.4T>G
ENST00000621939.1:c.809T>G ENSP00000477982.1:p.Phe270Cys
NM_005992.1:c.809T>G NP_005983.1:p.Phe270Cys
NM_080646.1:c.809T>G NP_542377.1:p.Phe270Cys
NM_080647.1:c.809T>G , LRG_226t1:c.809T>G NP_542378.1:p.Phe270Cys
XM_006724312.1:c.809T>G XP_006724375.1:p.Phe270Cys
XM_011530351.1:c.836T>G XP_011528653.1:p.Phe279Cys
XM_006724312.2:c.809T>G XP_006724375.1:p.Phe270Cys
XM_017028925.1:c.959T>G XP_016884414.1:p.Phe320Cys
XM_017028926.1:c.809T>G XP_016884415.1:p.Phe270Cys
XM_017028927.1:c.110T>G XP_016884416.1:p.Phe37Cys
XM_017028928.1:c.959T>G XP_016884417.1:p.Phe320Cys
NM_001379200.1:c.836T>G MANE Select NP_001366129.1:p.Phe279Cys
NM_080646.2:c.809T>G NP_542377.1:p.Phe270Cys