Canonical Allele Identifier: CA410682911

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19751769A>T (hg19) ; chr22:g.19764246A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764246A>T , CM000684.2:g.19764246A>T	GRCh38
NC_000022.10:g.19751769A>T , CM000684.1:g.19751769A>T	GRCh37
NC_000022.9:g.18131769A>T	NCBI36
NG_009229.1:g.12544A>T , LRG_226:g.12544A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.157A>T	ENSP00000514909.1:p.Lys53Ter
ENST00000649276.2:c.631A>T MANE Select	ENSP00000497003.1:p.Lys211Ter
ENST00000680333.1:c.604A>T	ENSP00000505472.1:p.Lys202Ter
ENST00000329705.11:c.604A>T	ENSP00000331176.7:p.Lys202Ter
ENST00000332710.8:c.604A>T	ENSP00000331791.4:p.Lys202Ter
ENST00000359500.7:c.604A>T	ENSP00000352483.3:p.Lys202Ter
ENST00000621939.1:c.604A>T	ENSP00000477982.1:p.Lys202Ter
NM_005992.1:c.604A>T	NP_005983.1:p.Lys202Ter
NM_080646.1:c.604A>T	NP_542377.1:p.Lys202Ter
NM_080647.1:c.604A>T , LRG_226t1:c.604A>T	NP_542378.1:p.Lys202Ter
XM_006724312.1:c.604A>T	XP_006724375.1:p.Lys202Ter
XM_011530351.1:c.631A>T	XP_011528653.1:p.Lys211Ter
XM_006724312.2:c.604A>T	XP_006724375.1:p.Lys202Ter
XM_017028925.1:c.754A>T	XP_016884414.1:p.Lys252Ter
XM_017028926.1:c.604A>T	XP_016884415.1:p.Lys202Ter
XM_017028928.1:c.754A>T	XP_016884417.1:p.Lys252Ter
NM_001379200.1:c.631A>T MANE Select	NP_001366129.1:p.Lys211Ter
NM_080646.2:c.604A>T	NP_542377.1:p.Lys202Ter