Canonical Allele Identifier: CA410684898

Gene: TBX1

Linked Data

• ClinVar Variation Id: 2739587
• ClinVar RCV Id: RCV003508955
• dbSNP Id: rs569976109
• MyVariant Identifiers: chr22:g.19754176A>C (hg19) ; chr22:g.19766653A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766653A>C , CM000684.2:g.19766653A>C	GRCh38
NC_000022.10:g.19754176A>C , CM000684.1:g.19754176A>C	GRCh37
NC_000022.9:g.18134176A>C	NCBI36
NG_009229.1:g.14951A>C , LRG_226:g.14951A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1301A>C MANE Select	ENSP00000497003.1:p.His434Pro
ENST00000329705.11:c.1009+651A>C	ENSP00000331176.7:n.1009+651A>C
ENST00000332710.8:c.1274A>C	ENSP00000331791.4:p.His425Pro
ENST00000359500.7:c.1009+651A>C	ENSP00000352483.3:n.1009+651A>C
ENST00000621939.1:c.1009+651A>C	ENSP00000477982.1:n.1009+651A>C
NM_005992.1:c.1009+651A>C	NP_005983.1:n.1009+651A>C
NM_080646.1:c.1009+651A>C	NP_542377.1:n.1009+651A>C
NM_080647.1:c.1274A>C , LRG_226t1:c.1274A>C	NP_542378.1:p.His425Pro
XM_006724312.1:c.1274A>C	XP_006724375.1:p.His425Pro
XM_011530351.1:c.1301A>C	XP_011528653.1:p.His434Pro
XM_006724312.2:c.1274A>C	XP_006724375.1:p.His425Pro
XM_017028925.1:c.1424A>C	XP_016884414.1:p.His475Pro
XM_017028926.1:c.1274A>C	XP_016884415.1:p.His425Pro
XM_017028927.1:c.629A>C	XP_016884416.1:p.His210Pro
XM_017028928.1:c.1159+651A>C	XP_016884417.1:n.1159+651A>C
NM_001379200.1:c.1301A>C MANE Select	NP_001366129.1:p.His434Pro
NM_080646.2:c.1009+651A>C	NP_542377.1:n.1009+651A>C