Canonical Allele Identifier: CA410683467

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752590T>G (hg19) ; chr22:g.19765067T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765067T>G , CM000684.2:g.19765067T>G	GRCh38
NC_000022.10:g.19752590T>G , CM000684.1:g.19752590T>G	GRCh37
NC_000022.9:g.18132590T>G	NCBI36
NG_009229.1:g.13365T>G , LRG_226:g.13365T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.347T>G	ENSP00000514909.1:p.Phe116Cys
ENST00000649276.2:c.821T>G MANE Select	ENSP00000497003.1:p.Phe274Cys
ENST00000329705.11:c.794T>G	ENSP00000331176.7:p.Phe265Cys
ENST00000332710.8:c.794T>G	ENSP00000331791.4:p.Phe265Cys
ENST00000359500.7:c.794T>G	ENSP00000352483.3:p.Phe265Cys
ENST00000621939.1:c.794T>G	ENSP00000477982.1:p.Phe265Cys
NM_005992.1:c.794T>G	NP_005983.1:p.Phe265Cys
NM_080646.1:c.794T>G	NP_542377.1:p.Phe265Cys
NM_080647.1:c.794T>G , LRG_226t1:c.794T>G	NP_542378.1:p.Phe265Cys
XM_006724312.1:c.794T>G	XP_006724375.1:p.Phe265Cys
XM_011530351.1:c.821T>G	XP_011528653.1:p.Phe274Cys
XM_006724312.2:c.794T>G	XP_006724375.1:p.Phe265Cys
XM_017028925.1:c.944T>G	XP_016884414.1:p.Phe315Cys
XM_017028926.1:c.794T>G	XP_016884415.1:p.Phe265Cys
XM_017028927.1:c.95T>G	XP_016884416.1:p.Phe32Cys
XM_017028928.1:c.944T>G	XP_016884417.1:p.Phe315Cys
NM_001379200.1:c.821T>G MANE Select	NP_001366129.1:p.Phe274Cys
NM_080646.2:c.794T>G	NP_542377.1:p.Phe265Cys