Canonical Allele Identifier: CA410682981

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2630029
• ClinVar RCV Id: RCV003391318
• MyVariant Identifiers: chr22:g.19751784A>T (hg19) ; chr22:g.19764261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764261A>T , CM000684.2:g.19764261A>T	GRCh38
NC_000022.10:g.19751784A>T , CM000684.1:g.19751784A>T	GRCh37
NC_000022.9:g.18131784A>T	NCBI36
NG_009229.1:g.12559A>T , LRG_226:g.12559A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.172A>T	ENSP00000514909.1:p.Met58Leu
ENST00000649276.2:c.646A>T MANE Select	ENSP00000497003.1:p.Met216Leu
ENST00000680333.1:c.619A>T	ENSP00000505472.1:p.Met207Leu
ENST00000329705.11:c.619A>T	ENSP00000331176.7:p.Met207Leu
ENST00000332710.8:c.619A>T	ENSP00000331791.4:p.Met207Leu
ENST00000359500.7:c.619A>T	ENSP00000352483.3:p.Met207Leu
ENST00000621939.1:c.619A>T	ENSP00000477982.1:p.Met207Leu
NM_005992.1:c.619A>T	NP_005983.1:p.Met207Leu
NM_080646.1:c.619A>T	NP_542377.1:p.Met207Leu
NM_080647.1:c.619A>T , LRG_226t1:c.619A>T	NP_542378.1:p.Met207Leu
XM_006724312.1:c.619A>T	XP_006724375.1:p.Met207Leu
XM_011530351.1:c.646A>T	XP_011528653.1:p.Met216Leu
XM_006724312.2:c.619A>T	XP_006724375.1:p.Met207Leu
XM_017028925.1:c.769A>T	XP_016884414.1:p.Met257Leu
XM_017028926.1:c.619A>T	XP_016884415.1:p.Met207Leu
XM_017028928.1:c.769A>T	XP_016884417.1:p.Met257Leu
NM_001379200.1:c.646A>T MANE Select	NP_001366129.1:p.Met216Leu
NM_080646.2:c.619A>T	NP_542377.1:p.Met207Leu