Canonical Allele Identifier: CA410683279

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19752510G>T (hg19) ; chr22:g.19764987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764987G>T , CM000684.2:g.19764987G>T	GRCh38
NC_000022.10:g.19752510G>T , CM000684.1:g.19752510G>T	GRCh37
NC_000022.9:g.18132510G>T	NCBI36
NG_009229.1:g.13285G>T , LRG_226:g.13285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.267G>T	ENSP00000514909.1:p.Gln89His
ENST00000649276.2:c.741G>T MANE Select	ENSP00000497003.1:p.Gln247His
ENST00000680333.1:c.714G>T	ENSP00000505472.1:p.Gln238His
ENST00000329705.11:c.714G>T	ENSP00000331176.7:p.Gln238His
ENST00000332710.8:c.714G>T	ENSP00000331791.4:p.Gln238His
ENST00000359500.7:c.714G>T	ENSP00000352483.3:p.Gln238His
ENST00000621939.1:c.714G>T	ENSP00000477982.1:p.Gln238His
NM_005992.1:c.714G>T	NP_005983.1:p.Gln238His
NM_080646.1:c.714G>T	NP_542377.1:p.Gln238His
NM_080647.1:c.714G>T , LRG_226t1:c.714G>T	NP_542378.1:p.Gln238His
XM_006724312.1:c.714G>T	XP_006724375.1:p.Gln238His
XM_011530351.1:c.741G>T	XP_011528653.1:p.Gln247His
XM_006724312.2:c.714G>T	XP_006724375.1:p.Gln238His
XM_017028925.1:c.864G>T	XP_016884414.1:p.Gln288His
XM_017028926.1:c.714G>T	XP_016884415.1:p.Gln238His
XM_017028927.1:c.15G>T	XP_016884416.1:p.Gln5His
XM_017028928.1:c.864G>T	XP_016884417.1:p.Gln288His
NM_001379200.1:c.741G>T MANE Select	NP_001366129.1:p.Gln247His
NM_080646.2:c.714G>T	NP_542377.1:p.Gln238His