Canonical Allele Identifier: CA410685309

Gene: TBX1

Linked Data

• dbSNP Id: rs1601294870
• gnomAD v3: 22-19766749-A-C
• gnomAD v4: 22-19766749-A-C
• MyVariant Identifiers: chr22:g.19754272A>C (hg19) ; chr22:g.19766749A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766749A>C , CM000684.2:g.19766749A>C	GRCh38
NC_000022.10:g.19754272A>C , CM000684.1:g.19754272A>C	GRCh37
NC_000022.9:g.18134272A>C	NCBI36
NG_009229.1:g.15047A>C , LRG_226:g.15047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1397A>C MANE Select	ENSP00000497003.1:p.His466Pro
ENST00000329705.11:c.1009+747A>C	ENSP00000331176.7:n.1009+747A>C
ENST00000332710.8:c.1370A>C	ENSP00000331791.4:p.His457Pro
ENST00000359500.7:c.1009+747A>C	ENSP00000352483.3:n.1009+747A>C
ENST00000621939.1:c.1009+747A>C	ENSP00000477982.1:n.1009+747A>C
NM_005992.1:c.1009+747A>C	NP_005983.1:n.1009+747A>C
NM_080646.1:c.1009+747A>C	NP_542377.1:n.1009+747A>C
NM_080647.1:c.1370A>C , LRG_226t1:c.1370A>C	NP_542378.1:p.His457Pro
XM_006724312.1:c.1370A>C	XP_006724375.1:p.His457Pro
XM_011530351.1:c.1397A>C	XP_011528653.1:p.His466Pro
XM_006724312.2:c.1370A>C	XP_006724375.1:p.His457Pro
XM_017028925.1:c.1520A>C	XP_016884414.1:p.His507Pro
XM_017028926.1:c.1370A>C	XP_016884415.1:p.His457Pro
XM_017028927.1:c.725A>C	XP_016884416.1:p.His242Pro
XM_017028928.1:c.1159+747A>C	XP_016884417.1:n.1159+747A>C
NM_001379200.1:c.1397A>C MANE Select	NP_001366129.1:p.His466Pro
NM_080646.2:c.1009+747A>C	NP_542377.1:n.1009+747A>C