Canonical Allele Identifier: CA410683528

Gene: TBX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19765099T>A , CM000684.2:g.19765099T>A	GRCh38
NC_000022.10:g.19752622T>A , CM000684.1:g.19752622T>A	GRCh37
NC_000022.9:g.18132622T>A	NCBI36
NG_009229.1:g.13397T>A , LRG_226:g.13397T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.379T>A	ENSP00000514909.1:p.Tyr127Asn
ENST00000649276.2:c.853T>A MANE Select	ENSP00000497003.1:p.Tyr285Asn
ENST00000329705.11:c.826T>A	ENSP00000331176.7:p.Tyr276Asn
ENST00000332710.8:c.826T>A	ENSP00000331791.4:p.Tyr276Asn
ENST00000359500.7:c.826T>A	ENSP00000352483.3:p.Tyr276Asn
ENST00000484336.1:n.21T>A
ENST00000621939.1:c.826T>A	ENSP00000477982.1:p.Tyr276Asn
NM_005992.1:c.826T>A	NP_005983.1:p.Tyr276Asn
NM_080646.1:c.826T>A	NP_542377.1:p.Tyr276Asn
NM_080647.1:c.826T>A , LRG_226t1:c.826T>A	NP_542378.1:p.Tyr276Asn
XM_006724312.1:c.826T>A	XP_006724375.1:p.Tyr276Asn
XM_011530351.1:c.853T>A	XP_011528653.1:p.Tyr285Asn
XM_006724312.2:c.826T>A	XP_006724375.1:p.Tyr276Asn
XM_017028925.1:c.976T>A	XP_016884414.1:p.Tyr326Asn
XM_017028926.1:c.826T>A	XP_016884415.1:p.Tyr276Asn
XM_017028927.1:c.127T>A	XP_016884416.1:p.Tyr43Asn
XM_017028928.1:c.976T>A	XP_016884417.1:p.Tyr326Asn
NM_001379200.1:c.853T>A MANE Select	NP_001366129.1:p.Tyr285Asn
NM_080646.2:c.826T>A	NP_542377.1:p.Tyr276Asn