Canonical Allele Identifier: CA2396031423

Gene: TBX1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764984C= , CM000684.2:g.19764984C=	GRCh38
NC_000022.10:g.19752507C= , CM000684.1:g.19752507C=	GRCh37
NC_000022.9:g.18132507C=	NCBI36
NG_009229.1:g.13282C= , LRG_226:g.13282C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.264C=	ENSP00000514909.1:p.Tyr88=
ENST00000649276.2:c.738C= MANE Select	ENSP00000497003.1:p.Tyr246=
ENST00000680333.1:c.711C=	ENSP00000505472.1:p.Tyr237=
ENST00000329705.11:c.711C=	ENSP00000331176.7:p.Tyr237=
ENST00000332710.8:c.711C=	ENSP00000331791.4:p.Tyr237=
ENST00000359500.7:c.711C=	ENSP00000352483.3:p.Tyr237=
ENST00000621939.1:c.711C=	ENSP00000477982.1:p.Tyr237=
NM_005992.1:c.711C=	NP_005983.1:p.Tyr237=
NM_080646.1:c.711C=	NP_542377.1:p.Tyr237=
NM_080647.1:c.711C= , LRG_226t1:c.711C=	NP_542378.1:p.Tyr237=
XM_006724312.1:c.711C=	XP_006724375.1:p.Tyr237=
XM_011530351.1:c.738C=	XP_011528653.1:p.Tyr246=
XM_006724312.2:c.711C=	XP_006724375.1:p.Tyr237=
XM_017028925.1:c.861C=	XP_016884414.1:p.Tyr287=
XM_017028926.1:c.711C=	XP_016884415.1:p.Tyr237=
XM_017028927.1:c.12C=	XP_016884416.1:p.Tyr4=
XM_017028928.1:c.861C=	XP_016884417.1:p.Tyr287=
NM_001379200.1:c.738C= MANE Select	NP_001366129.1:p.Tyr246=
NM_080646.2:c.711C=	NP_542377.1:p.Tyr237=