Canonical Allele Identifier: CA410683418

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2734972
• ClinVar RCV Id: RCV003508835
• MyVariant Identifiers: chr22:g.19752570G>T (hg19) ; chr22:g.19765047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765047G>T , CM000684.2:g.19765047G>T	GRCh38
NC_000022.10:g.19752570G>T , CM000684.1:g.19752570G>T	GRCh37
NC_000022.9:g.18132570G>T	NCBI36
NG_009229.1:g.13345G>T , LRG_226:g.13345G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.327G>T	ENSP00000514909.1:p.Glu109Asp
ENST00000649276.2:c.801G>T MANE Select	ENSP00000497003.1:p.Glu267Asp
ENST00000329705.11:c.774G>T	ENSP00000331176.7:p.Glu258Asp
ENST00000332710.8:c.774G>T	ENSP00000331791.4:p.Glu258Asp
ENST00000359500.7:c.774G>T	ENSP00000352483.3:p.Glu258Asp
ENST00000621939.1:c.774G>T	ENSP00000477982.1:p.Glu258Asp
NM_005992.1:c.774G>T	NP_005983.1:p.Glu258Asp
NM_080646.1:c.774G>T	NP_542377.1:p.Glu258Asp
NM_080647.1:c.774G>T , LRG_226t1:c.774G>T	NP_542378.1:p.Glu258Asp
XM_006724312.1:c.774G>T	XP_006724375.1:p.Glu258Asp
XM_011530351.1:c.801G>T	XP_011528653.1:p.Glu267Asp
XM_006724312.2:c.774G>T	XP_006724375.1:p.Glu258Asp
XM_017028925.1:c.924G>T	XP_016884414.1:p.Glu308Asp
XM_017028926.1:c.774G>T	XP_016884415.1:p.Glu258Asp
XM_017028927.1:c.75G>T	XP_016884416.1:p.Glu25Asp
XM_017028928.1:c.924G>T	XP_016884417.1:p.Glu308Asp
NM_001379200.1:c.801G>T MANE Select	NP_001366129.1:p.Glu267Asp
NM_080646.2:c.774G>T	NP_542377.1:p.Glu258Asp