Canonical Allele Identifier: CA1024131990

Gene: TBX1

Linked Data

• dbSNP Id: rs1936882498
• gnomAD v3: 22-19766956-T-C
• gnomAD v4: 22-19766956-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766956T>C , CM000684.2:g.19766956T>C	GRCh38
NC_000022.10:g.19754479T>C , CM000684.1:g.19754479T>C	GRCh37
NC_000022.9:g.18134479T>C	NCBI36
NG_009229.1:g.15254T>C , LRG_226:g.15254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.*89T>C MANE Select	ENSP00000497003.1:n.*89T>C
ENST00000329705.11:c.1009+954T>C	ENSP00000331176.7:n.1009+954T>C
ENST00000332710.8:c.*89T>C	ENSP00000331791.4:n.*89T>C
ENST00000359500.7:c.1009+954T>C	ENSP00000352483.3:n.1009+954T>C
ENST00000621939.1:c.1009+954T>C	ENSP00000477982.1:n.1009+954T>C
NM_005992.1:c.1009+954T>C	NP_005983.1:n.1009+954T>C
NM_080646.1:c.1009+954T>C	NP_542377.1:n.1009+954T>C
NM_080647.1:c.*89T>C , LRG_226t1:c.*89T>C	NP_542378.1:n.*89T>C
XM_006724312.1:c.*89T>C	XP_006724375.1:n.*89T>C
XM_011530351.1:c.*89T>C	XP_011528653.1:n.*89T>C
XM_006724312.2:c.*89T>C	XP_006724375.1:n.*89T>C
XM_017028925.1:c.*89T>C	XP_016884414.1:n.*89T>C
XM_017028926.1:c.*89T>C	XP_016884415.1:n.*89T>C
XM_017028927.1:c.*89T>C	XP_016884416.1:n.*89T>C
XM_017028928.1:c.1159+954T>C	XP_016884417.1:n.1159+954T>C
NM_001379200.1:c.*89T>C MANE Select	NP_001366129.1:n.*89T>C
NM_080646.2:c.1009+954T>C	NP_542377.1:n.1009+954T>C