Canonical Allele Identifier: CA10102521

Gene: TBX1

Linked Data

• ClinVar Variation Id: 263383
• ClinVar RCV Id: RCV000251932 ; RCV000454719 ; RCV000713781 ; RCV001520749
• dbSNP Id: rs2301558
• ExAC: 22:19751829 C / T
• gnomAD v2: 22-19751829-C-T
• gnomAD v3: 22-19764306-C-T
• gnomAD v4: 22-19764306-C-T
• MyVariant Identifiers: chr22:g.19751829C>T (hg19) ; chr22:g.19764306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19764306C>T , CM000684.2:g.19764306C>T	GRCh38
NC_000022.10:g.19751829C>T , CM000684.1:g.19751829C>T	GRCh37
NC_000022.9:g.18131829C>T	NCBI36
NG_009229.1:g.12604C>T , LRG_226:g.12604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700274.1:c.217C>T	ENSP00000514909.1:p.Leu73=
ENST00000649276.2:c.691C>T MANE Select	ENSP00000497003.1:p.Leu231=
ENST00000680333.1:c.664C>T	ENSP00000505472.1:p.Leu222=
ENST00000329705.11:c.664C>T	ENSP00000331176.7:p.Leu222=
ENST00000332710.8:c.664C>T	ENSP00000331791.4:p.Leu222=
ENST00000359500.7:c.664C>T	ENSP00000352483.3:p.Leu222=
ENST00000621939.1:c.664C>T	ENSP00000477982.1:p.Leu222=
NM_005992.1:c.664C>T	NP_005983.1:p.Leu222=
NM_080646.1:c.664C>T	NP_542377.1:p.Leu222=
NM_080647.1:c.664C>T , LRG_226t1:c.664C>T	NP_542378.1:p.Leu222=
XM_006724312.1:c.664C>T	XP_006724375.1:p.Leu222=
XM_011530351.1:c.691C>T	XP_011528653.1:p.Leu231=
XM_006724312.2:c.664C>T	XP_006724375.1:p.Leu222=
XM_017028925.1:c.814C>T	XP_016884414.1:p.Leu272=
XM_017028926.1:c.664C>T	XP_016884415.1:p.Leu222=
XM_017028928.1:c.814C>T	XP_016884417.1:p.Leu272=
NM_001379200.1:c.691C>T MANE Select	NP_001366129.1:p.Leu231=
NM_080646.2:c.664C>T	NP_542377.1:p.Leu222=