Canonical Allele Identifier: CA10102722

Gene: TBX1

Linked Data

• ClinVar Variation Id: 518598
• ClinVar RCV Id: RCV000620652 ; RCV000876591 ; RCV001821753 ; RCV003892392 ; RCV003437330
• dbSNP Id: rs755937050
• ExAC: 22:19754227 G / C
• gnomAD v2: 22-19754227-G-C
• gnomAD v3: 22-19766704-G-C
• gnomAD v4: 22-19766704-G-C
• MyVariant Identifiers: chr22:g.19754227G>C (hg19) ; chr22:g.19766704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766704G>C , CM000684.2:g.19766704G>C	GRCh38
NC_000022.10:g.19754227G>C , CM000684.1:g.19754227G>C	GRCh37
NC_000022.9:g.18134227G>C	NCBI36
NG_009229.1:g.15002G>C , LRG_226:g.15002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1352G>C MANE Select	ENSP00000497003.1:p.Arg451Pro
ENST00000329705.11:c.1009+702G>C	ENSP00000331176.7:n.1009+702G>C
ENST00000332710.8:c.1325G>C	ENSP00000331791.4:p.Arg442Pro
ENST00000359500.7:c.1009+702G>C	ENSP00000352483.3:n.1009+702G>C
ENST00000621939.1:c.1009+702G>C	ENSP00000477982.1:n.1009+702G>C
NM_005992.1:c.1009+702G>C	NP_005983.1:n.1009+702G>C
NM_080646.1:c.1009+702G>C	NP_542377.1:n.1009+702G>C
NM_080647.1:c.1325G>C , LRG_226t1:c.1325G>C	NP_542378.1:p.Arg442Pro
XM_006724312.1:c.1325G>C	XP_006724375.1:p.Arg442Pro
XM_011530351.1:c.1352G>C	XP_011528653.1:p.Arg451Pro
XM_006724312.2:c.1325G>C	XP_006724375.1:p.Arg442Pro
XM_017028925.1:c.1475G>C	XP_016884414.1:p.Arg492Pro
XM_017028926.1:c.1325G>C	XP_016884415.1:p.Arg442Pro
XM_017028927.1:c.680G>C	XP_016884416.1:p.Arg227Pro
XM_017028928.1:c.1159+702G>C	XP_016884417.1:n.1159+702G>C
NM_001379200.1:c.1352G>C MANE Select	NP_001366129.1:p.Arg451Pro
NM_080646.2:c.1009+702G>C	NP_542377.1:n.1009+702G>C