Canonical Allele Identifier: CA513361608

Gene: TBX1

Linked Data

• MyVariant Identifiers: chr22:g.19754389A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766866A>G , CM000684.2:g.19766866A>G	GRCh38
NC_000022.10:g.19754389A>G , CM000684.1:g.19754389A>G	GRCh37
NC_000022.9:g.18134389A>G	NCBI36
NG_009229.1:g.15164A>G , LRG_226:g.15164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1514A>G MANE Select	ENSP00000497003.1:p.Ter505=
ENST00000329705.11:c.1009+864A>G	ENSP00000331176.7:n.1009+864A>G
ENST00000332710.8:c.1487A>G	ENSP00000331791.4:p.Ter496=
ENST00000359500.7:c.1009+864A>G	ENSP00000352483.3:n.1009+864A>G
ENST00000621939.1:c.1009+864A>G	ENSP00000477982.1:n.1009+864A>G
NM_005992.1:c.1009+864A>G	NP_005983.1:n.1009+864A>G
NM_080646.1:c.1009+864A>G	NP_542377.1:n.1009+864A>G
NM_080647.1:c.1487A>G , LRG_226t1:c.1487A>G	NP_542378.1:p.Ter496=
XM_006724312.1:c.1487A>G	XP_006724375.1:p.Ter496=
XM_011530351.1:c.1514A>G	XP_011528653.1:p.Ter505=
XM_006724312.2:c.1487A>G	XP_006724375.1:p.Ter496=
XM_017028925.1:c.1637A>G	XP_016884414.1:p.Ter546=
XM_017028926.1:c.1487A>G	XP_016884415.1:p.Ter496=
XM_017028927.1:c.842A>G	XP_016884416.1:p.Ter281=
XM_017028928.1:c.1159+864A>G	XP_016884417.1:n.1159+864A>G
NM_001379200.1:c.1514A>G MANE Select	NP_001366129.1:p.Ter505=
NM_080646.2:c.1009+864A>G	NP_542377.1:n.1009+864A>G