Canonical Allele Identifier: CA410683448
Gene: TBX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19765058C>T , CM000684.2:g.19765058C>T GRCh38
NC_000022.10:g.19752581C>T , CM000684.1:g.19752581C>T GRCh37
NC_000022.9:g.18132581C>T NCBI36
NG_009229.1:g.13356C>T , LRG_226:g.13356C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700274.1:c.338C>T ENSP00000514909.1:p.Thr113Ile
ENST00000649276.2:c.812C>T MANE Select ENSP00000497003.1:p.Thr271Ile
ENST00000329705.11:c.785C>T ENSP00000331176.7:p.Thr262Ile
ENST00000332710.8:c.785C>T ENSP00000331791.4:p.Thr262Ile
ENST00000359500.7:c.785C>T ENSP00000352483.3:p.Thr262Ile
ENST00000621939.1:c.785C>T ENSP00000477982.1:p.Thr262Ile
NM_005992.1:c.785C>T NP_005983.1:p.Thr262Ile
NM_080646.1:c.785C>T NP_542377.1:p.Thr262Ile
NM_080647.1:c.785C>T , LRG_226t1:c.785C>T NP_542378.1:p.Thr262Ile
XM_006724312.1:c.785C>T XP_006724375.1:p.Thr262Ile
XM_011530351.1:c.812C>T XP_011528653.1:p.Thr271Ile
XM_006724312.2:c.785C>T XP_006724375.1:p.Thr262Ile
XM_017028925.1:c.935C>T XP_016884414.1:p.Thr312Ile
XM_017028926.1:c.785C>T XP_016884415.1:p.Thr262Ile
XM_017028927.1:c.86C>T XP_016884416.1:p.Thr29Ile
XM_017028928.1:c.935C>T XP_016884417.1:p.Thr312Ile
NM_001379200.1:c.812C>T MANE Select NP_001366129.1:p.Thr271Ile
NM_080646.2:c.785C>T NP_542377.1:p.Thr262Ile