Canonical Allele Identifier: CA513361442
Gene: TBX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19765098C>T , CM000684.2:g.19765098C>T GRCh38
NC_000022.10:g.19752621C>T , CM000684.1:g.19752621C>T GRCh37
NC_000022.9:g.18132621C>T NCBI36
NG_009229.1:g.13396C>T , LRG_226:g.13396C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700274.1:c.378C>T ENSP00000514909.1:p.Ala126=
ENST00000649276.2:c.852C>T MANE Select ENSP00000497003.1:p.Ala284=
ENST00000329705.11:c.825C>T ENSP00000331176.7:p.Ala275=
ENST00000332710.8:c.825C>T ENSP00000331791.4:p.Ala275=
ENST00000359500.7:c.825C>T ENSP00000352483.3:p.Ala275=
ENST00000484336.1:n.20C>T
ENST00000621939.1:c.825C>T ENSP00000477982.1:p.Ala275=
NM_005992.1:c.825C>T NP_005983.1:p.Ala275=
NM_080646.1:c.825C>T NP_542377.1:p.Ala275=
NM_080647.1:c.825C>T , LRG_226t1:c.825C>T NP_542378.1:p.Ala275=
XM_006724312.1:c.825C>T XP_006724375.1:p.Ala275=
XM_011530351.1:c.852C>T XP_011528653.1:p.Ala284=
XM_006724312.2:c.825C>T XP_006724375.1:p.Ala275=
XM_017028925.1:c.975C>T XP_016884414.1:p.Ala325=
XM_017028926.1:c.825C>T XP_016884415.1:p.Ala275=
XM_017028927.1:c.126C>T XP_016884416.1:p.Ala42=
XM_017028928.1:c.975C>T XP_016884417.1:p.Ala325=
NM_001379200.1:c.852C>T MANE Select NP_001366129.1:p.Ala284=
NM_080646.2:c.825C>T NP_542377.1:p.Ala275=