Canonical Allele Identifier: CA410685219

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1716532
• ClinVar RCV Id: RCV002303569
• gnomAD v4: 22-19766733-C-T
• MyVariant Identifiers: chr22:g.19754256C>T (hg19) ; chr22:g.19766733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766733C>T , CM000684.2:g.19766733C>T	GRCh38
NC_000022.10:g.19754256C>T , CM000684.1:g.19754256C>T	GRCh37
NC_000022.9:g.18134256C>T	NCBI36
NG_009229.1:g.15031C>T , LRG_226:g.15031C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1381C>T MANE Select	ENSP00000497003.1:p.Pro461Ser
ENST00000329705.11:c.1009+731C>T	ENSP00000331176.7:n.1009+731C>T
ENST00000332710.8:c.1354C>T	ENSP00000331791.4:p.Pro452Ser
ENST00000359500.7:c.1009+731C>T	ENSP00000352483.3:n.1009+731C>T
ENST00000621939.1:c.1009+731C>T	ENSP00000477982.1:n.1009+731C>T
NM_005992.1:c.1009+731C>T	NP_005983.1:n.1009+731C>T
NM_080646.1:c.1009+731C>T	NP_542377.1:n.1009+731C>T
NM_080647.1:c.1354C>T , LRG_226t1:c.1354C>T	NP_542378.1:p.Pro452Ser
XM_006724312.1:c.1354C>T	XP_006724375.1:p.Pro452Ser
XM_011530351.1:c.1381C>T	XP_011528653.1:p.Pro461Ser
XM_006724312.2:c.1354C>T	XP_006724375.1:p.Pro452Ser
XM_017028925.1:c.1504C>T	XP_016884414.1:p.Pro502Ser
XM_017028926.1:c.1354C>T	XP_016884415.1:p.Pro452Ser
XM_017028927.1:c.709C>T	XP_016884416.1:p.Pro237Ser
XM_017028928.1:c.1159+731C>T	XP_016884417.1:n.1159+731C>T
NM_001379200.1:c.1381C>T MANE Select	NP_001366129.1:p.Pro461Ser
NM_080646.2:c.1009+731C>T	NP_542377.1:n.1009+731C>T