Canonical Allele Identifier: CA513361214

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2447902
• ClinVar RCV Id: RCV003176688
• dbSNP Id: rs1671253647
• MyVariant Identifiers: chr22:g.19751771G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764248G>A , CM000684.2:g.19764248G>A	GRCh38
NC_000022.10:g.19751771G>A , CM000684.1:g.19751771G>A	GRCh37
NC_000022.9:g.18131771G>A	NCBI36
NG_009229.1:g.12546G>A , LRG_226:g.12546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.159G>A	ENSP00000514909.1:p.Lys53=
ENST00000649276.2:c.633G>A MANE Select	ENSP00000497003.1:p.Lys211=
ENST00000680333.1:c.606G>A	ENSP00000505472.1:p.Lys202=
ENST00000329705.11:c.606G>A	ENSP00000331176.7:p.Lys202=
ENST00000332710.8:c.606G>A	ENSP00000331791.4:p.Lys202=
ENST00000359500.7:c.606G>A	ENSP00000352483.3:p.Lys202=
ENST00000621939.1:c.606G>A	ENSP00000477982.1:p.Lys202=
NM_005992.1:c.606G>A	NP_005983.1:p.Lys202=
NM_080646.1:c.606G>A	NP_542377.1:p.Lys202=
NM_080647.1:c.606G>A , LRG_226t1:c.606G>A	NP_542378.1:p.Lys202=
XM_006724312.1:c.606G>A	XP_006724375.1:p.Lys202=
XM_011530351.1:c.633G>A	XP_011528653.1:p.Lys211=
XM_006724312.2:c.606G>A	XP_006724375.1:p.Lys202=
XM_017028925.1:c.756G>A	XP_016884414.1:p.Lys252=
XM_017028926.1:c.606G>A	XP_016884415.1:p.Lys202=
XM_017028928.1:c.756G>A	XP_016884417.1:p.Lys252=
NM_001379200.1:c.633G>A MANE Select	NP_001366129.1:p.Lys211=
NM_080646.2:c.606G>A	NP_542377.1:p.Lys202=