Canonical Allele Identifier: CA513361439

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765095T>G , CM000684.2:g.19765095T>G	GRCh38
NC_000022.10:g.19752618T>G , CM000684.1:g.19752618T>G	GRCh37
NC_000022.9:g.18132618T>G	NCBI36
NG_009229.1:g.13393T>G , LRG_226:g.13393T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001379200.1:c.849T>G MANE Select	NP_001366129.1:p.Thr283=
ENST00000649276.2:c.849T>G MANE Select	ENSP00000497003.1:p.Thr283=
NM_005992.1:c.822T>G	NP_005983.1:p.Thr274=
NM_080646.1:c.822T>G	NP_542377.1:p.Thr274=
NM_080646.2:c.822T>G	NP_542377.1:p.Thr274=
NM_080647.1:c.822T>G , LRG_226t1:c.822T>G	NP_542378.1:p.Thr274=
ENST00000329705.11:c.822T>G	ENSP00000331176.7:p.Thr274=
ENST00000332710.8:c.822T>G	ENSP00000331791.4:p.Thr274=
ENST00000359500.7:c.822T>G	ENSP00000352483.3:p.Thr274=
ENST00000484336.1:n.17T>G
ENST00000621939.1:c.822T>G	ENSP00000477982.1:p.Thr274=
ENST00000700274.1:c.375T>G	ENSP00000514909.1:p.Thr125=
XM_006724312.1:c.822T>G	XP_006724375.1:p.Thr274=
XM_006724312.2:c.822T>G	XP_006724375.1:p.Thr274=
XM_011530351.1:c.849T>G	XP_011528653.1:p.Thr283=
XM_017028925.1:c.972T>G	XP_016884414.1:p.Thr324=
XM_017028926.1:c.822T>G	XP_016884415.1:p.Thr274=
XM_017028927.1:c.123T>G	XP_016884416.1:p.Thr41=
XM_017028928.1:c.972T>G	XP_016884417.1:p.Thr324=