Canonical Allele Identifier: CA410683449

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2562906
• ClinVar RCV Id: RCV003296899
• MyVariant Identifiers: chr22:g.19752583T>A (hg19) ; chr22:g.19765060T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765060T>A , CM000684.2:g.19765060T>A	GRCh38
NC_000022.10:g.19752583T>A , CM000684.1:g.19752583T>A	GRCh37
NC_000022.9:g.18132583T>A	NCBI36
NG_009229.1:g.13358T>A , LRG_226:g.13358T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.340T>A	ENSP00000514909.1:p.Phe114Ile
ENST00000649276.2:c.814T>A MANE Select	ENSP00000497003.1:p.Phe272Ile
ENST00000329705.11:c.787T>A	ENSP00000331176.7:p.Phe263Ile
ENST00000332710.8:c.787T>A	ENSP00000331791.4:p.Phe263Ile
ENST00000359500.7:c.787T>A	ENSP00000352483.3:p.Phe263Ile
ENST00000621939.1:c.787T>A	ENSP00000477982.1:p.Phe263Ile
NM_005992.1:c.787T>A	NP_005983.1:p.Phe263Ile
NM_080646.1:c.787T>A	NP_542377.1:p.Phe263Ile
NM_080647.1:c.787T>A , LRG_226t1:c.787T>A	NP_542378.1:p.Phe263Ile
XM_006724312.1:c.787T>A	XP_006724375.1:p.Phe263Ile
XM_011530351.1:c.814T>A	XP_011528653.1:p.Phe272Ile
XM_006724312.2:c.787T>A	XP_006724375.1:p.Phe263Ile
XM_017028925.1:c.937T>A	XP_016884414.1:p.Phe313Ile
XM_017028926.1:c.787T>A	XP_016884415.1:p.Phe263Ile
XM_017028927.1:c.88T>A	XP_016884416.1:p.Phe30Ile
XM_017028928.1:c.937T>A	XP_016884417.1:p.Phe313Ile
NM_001379200.1:c.814T>A MANE Select	NP_001366129.1:p.Phe272Ile
NM_080646.2:c.787T>A	NP_542377.1:p.Phe263Ile